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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   dravet syndrome
  

Disease ID 267
Disease dravet syndrome
Definition
A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.
Synonym
dravet syndromes
eiee6
epilepsy, myoclonic, infantile, severe
epileptic encephalopathy, early infantile, 6
infantile severe myoclonic epilepsy
myoclonic epilepsy, infantile, severe
myoclonic epilepsy, severe infantile
myoclonic epilepsy, severe, of infancy
severe infantile myoclonic epilepsy
severe myoclonic epilepsy in infancy
severe myoclonic epilepsy in infancy (disorder)
severe myoclonic epilepsy of infancy
severe myoclonic epilepsy, infantile
smei
syndrome, dravet
syndromes, dravet
Orphanet
OMIM
DOID
UMLS
C0751122
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:9)
C0038220  |  status epilepticus  |  3
C0014544  |  epilepsy  |  3
C0004352  |  autism  |  1
C0014544  |  epileptic seizures  |  1
C0751265  |  learning disability  |  1
C0014544  |  epileptic seizure  |  1
C0006017  |  pertussis  |  1
C0037317  |  sleep disturbance  |  1
C0751651  |  mitochondrial disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
6323  |  SCN1A  |  CLINVAR;UNIPROT
57526  |  PCDH19  |  UNIPROT
2566  |  GABRG2  |  UNIPROT
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:1)
6323  |  SCN1A  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:62)
501  |  ALDH7A1  |  1.322  |  DISEASES
170302  |  ARX  |  2.346  |  DISEASES
8913  |  CACNA1G  |  2.285  |  DISEASES
782  |  CACNB1  |  2.711  |  DISEASES
785  |  CACNB4  |  2.065  |  DISEASES
6792  |  CDKL5  |  2.98  |  DISEASES
1106  |  CHD2  |  2.635  |  DISEASES
1141  |  CHRNB2  |  1.637  |  DISEASES
1269  |  CNR2  |  1.214  |  DISEASES
1544  |  CYP1A2  |  1.122  |  DISEASES
1557  |  CYP2C19  |  3.184  |  DISEASES
1741  |  DLG3  |  1.58  |  DISEASES
1745  |  DLX1  |  1.955  |  DISEASES
1805  |  DPT  |  1.977  |  DISEASES
114327  |  EFHC1  |  1.632  |  DISEASES
7957  |  EPM2A  |  1.864  |  DISEASES
2259  |  FGF14  |  2.058  |  DISEASES
2290  |  FOXG1  |  1.013  |  DISEASES
122786  |  FRMD6  |  1.715  |  DISEASES
2555  |  GABRA2  |  1.912  |  DISEASES
2563  |  GABRD  |  4.053  |  DISEASES
2566  |  GABRG2  |  5.925  |  DISEASES
2617  |  GARS  |  1.544  |  DISEASES
10243  |  GPHN  |  1.485  |  DISEASES
3736  |  KCNA1  |  1.078  |  DISEASES
3785  |  KCNQ2  |  4.376  |  DISEASES
3786  |  KCNQ3  |  3.122  |  DISEASES
57582  |  KCNT1  |  2.858  |  DISEASES
154881  |  KCTD7  |  1.915  |  DISEASES
10319  |  LAMC3  |  2.349  |  DISEASES
9211  |  LGI1  |  1.582  |  DISEASES
9863  |  MAGI2  |  1.892  |  DISEASES
4204  |  MECP2  |  1.515  |  DISEASES
4356  |  MPP3  |  2.184  |  DISEASES
4566  |  MT-TK  |  1.333  |  DISEASES
27247  |  NFU1  |  2.155  |  DISEASES
378884  |  NHLRC1  |  1.213  |  DISEASES
5091  |  PC  |  1.062  |  DISEASES
57526  |  PCDH19  |  5.863  |  DISEASES
23236  |  PLCB1  |  1.34  |  DISEASES
11284  |  PNKP  |  2.032  |  DISEASES
51400  |  PPME1  |  2.322  |  DISEASES
5504  |  PPP1R2  |  2.826  |  DISEASES
6263  |  RYR3  |  1.799  |  DISEASES
6324  |  SCN1B  |  5.889  |  DISEASES
6330  |  SCN4B  |  2.249  |  DISEASES
6332  |  SCN7A  |  2.679  |  DISEASES
6334  |  SCN8A  |  3.874  |  DISEASES
6335  |  SCN9A  |  3.288  |  DISEASES
79751  |  SLC25A22  |  3.535  |  DISEASES
6513  |  SLC2A1  |  2.41  |  DISEASES
57282  |  SLC4A10  |  2.47  |  DISEASES
10479  |  SLC9A6  |  1.701  |  DISEASES
84679  |  SLC9A7  |  1.954  |  DISEASES
6635  |  SNRPE  |  4.84  |  DISEASES
6709  |  SPTAN1  |  1.185  |  DISEASES
6812  |  STXBP1  |  4.216  |  DISEASES
9900  |  SV2A  |  1.095  |  DISEASES
23270  |  TSPYL4  |  3.491  |  DISEASES
89910  |  UBE3B  |  1.427  |  DISEASES
51733  |  UPB1  |  2.428  |  DISEASES
7453  |  WARS  |  3.76  |  DISEASES
Locus
Symbol | Locus(Total Locus:8)
SCN1B  |  19q13.11
SCN1A  |  2q24.3
GABRG2  |  5q34
STXBP1  |  9q34.11
SCN9A  |  2q24.3
GABRA1  |  5q34
SCN2A  |  2q24.3
PCDH19  |  Xq22.1
Disease ID 267
Disease dravet syndrome
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:17)
HP:0002353  |  EEG abnormality
HP:0001263  |  Global developmental delay
HP:0001250  |  Seizures
HP:0000708  |  Behavioral abnormality
HP:0007334  |  Bilateral convulsive seizures
HP:0001251  |  Ataxia
HP:0002266  |  Focal clonic seizures
HP:0000992  |  Cutaneous photosensitivity
HP:0012758  |  Neurodevelopmental delay
HP:0001337  |  Tremor
HP:0011151  |  Obtundation status
HP:0002384  |  Focal seizures with impairment of consciousness or awareness
HP:0002373  |  Febrile seizures
HP:0002121  |  Absence seizures
HP:0001252  |  Muscular hypotonia
HP:0002123  |  Generalized myoclonic seizures
HP:0002197  |  Generalized seizures
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:13)
HP:0001250  |  Seizures  |  18
HP:0001298  |  Encephalopathy  |  5
HP:0010819  |  drop attacks  |  3
HP:0002133  |  Status epilepticus  |  3
HP:0006846  |  Acute encephalopathy  |  2
HP:0007359  |  Partial seizures  |  1
HP:0002373  |  Febrile convulsions  |  1
HP:0002360  |  Sleep disturbance  |  1
HP:0000717  |  Autism  |  1
HP:0002180  |  Neurodegeneration  |  1
HP:0011170  |  Myoclonic atonic seizures  |  1
HP:0200134  |  Epileptic encephalopathy  |  1
HP:0007105  |  Infantile encephalopathy  |  1
Disease ID 267
Disease dravet syndrome
Manually Symptom
UMLS  | Name(Total Manually Symptoms:4)
C0751494  |  convulsive seizures
C0543888  |  epileptic encephalopathy
C0038220  |  status epilepticus
C0014544  |  epilepsy
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0038220  |  status epilepticus  |  3
C0014544  |  epilepsy  |  3
C0751494  |  convulsive seizures  |  2
C0543888  |  epileptic encephalopathy  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:284)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121917907207295076323SCN1Aumls:C0751122UNIPROTGenotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).0.3709551272010SCN1A2166073435AG
rs121917908207295076323SCN1Aumls:C0751122UNIPROTGenotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).0.3709551272010SCN1A;LOC1027240582165999764CT,G
rs121917909207295076323SCN1Aumls:C0751122UNIPROTGenotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).0.3709551272010SCN1A2166051967GA
rs121917911128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582166013752CG
rs121917912170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582166012254CT
rs121917913170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582166002491TC
rs121917914175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165992387CT
rs121917915175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165994176CA
rs121917916175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165991916CT
rs121917917175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A2166037852CA
rs121917918NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058651CT
rs121917918147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166058651CT
rs121917919175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165994236AG
rs121917920175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A2166047731TC
rs121917921175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165991927GA
rs121917922175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165992302GC,A
rs121917922189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165992302GC,A
rs121917923NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047725GT,A
rs121917923175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A2166047725GT,A
rs121917924175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165998106CA
rs121917925175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582166002516TA
rs121917926175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A;LOC1027240582165992129AG
rs121917927NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046969CT
rs121917927127547086323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166046969CT
rs121917928175619576323SCN1Aumls:C0751122UNIPROTThis study confirms the high sensitivity of SCN1A for SMEI/SMEB phenotypes.0.3709551272007SCN1A2166048949CA
rs121917929170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166046970GT,A
rs121917929NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046970GT,A
rs121917933128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166073388CA
rs121917934170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166054756TG
rs121917935170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166054660CT
rs121917936170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166052896GT
rs121917937128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166052866AC
rs121917937NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052866AC
rs121917938NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051845AG
rs121917938128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166051845AG
rs121917939170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166047648GC
rs121917940128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166046871AT
rs121917941170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166039577GC
rs121917942170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166039476CT
rs121917943170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A2166037897AG
rs121917944170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582166002479AC
rs121917945170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582165998162GA
rs121917946128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165998126AG
rs121917947170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582165998090AG
rs121917948128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165992273GC
rs121917949170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582165992134AG,C
rs121917950170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582165991990CT
rs121917951170546846323SCN1Aumls:C0751122UNIPROTFamilial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.0.3709551272006SCN1A;LOC1027240582165991957GA
rs121917952128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165991936AG
rs121917957NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047667CT
rs121917958184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A2166047699AT,G
rs121917959184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A2166058599CT,G
rs121917960184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A;LOC1027240582166002753CT
rs121917961184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A;LOC1027240582166002683CG
rs121917962184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A;LOC1027240582165998129TC
rs121917963184134716323SCN1Aumls:C0751122UNIPROTAn additional search for SCN1A intragenic microdeletions in the remaining patients with SMEI/SMEI-borderland and no point mutations was also negative.0.3709551272008SCN1A;LOC1027240582166013829AG
rs121917964173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166073371TC
rs121917965173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166058652GA
rs121917965NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058652GA
rs121917966167139206323SCN1Aumls:C0751122UNIPROTClinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.0.3709551272006SCN1A2166046940AG
rs121917967167139206323SCN1Aumls:C0751122UNIPROTClinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.0.3709551272006SCN1A2166046910AT
rs121917968173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166041298AG
rs121917969147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166037891AG
rs121917970173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166037889AG
rs121917971147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166037885CT,G
rs121917971NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037885CT,G
rs121917972173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166037873CT
rs121917973167139206323SCN1Aumls:C0751122UNIPROTClinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.0.3709551272006SCN1A;LOC1027240582166012274TG
rs121917974173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165999740CG
rs121917975173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165994365TC
rs121917976167139206323SCN1Aumls:C0751122UNIPROTClinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.0.3709551272006SCN1A;LOC1027240582165992341CT,G
rs121917977173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165992156AC
rs121917978173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165992113GT,C
rs121917979195897746323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.0.3709551272010SCN1A;LOC1027240582165992099AG
rs121917980189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165991928CT
rs121917981173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165991510AG
rs121917982173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166073387CG
rs121917983173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166054644GC
rs121917984NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052869GC,A
rs121917984173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166052869GC,A
rs121917985173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166051968CT
rs121917985NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051968CT
rs121917986120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582166002588CT,G
rs121917987167139206323SCN1Aumls:C0751122UNIPROTClinical-molecular correlation showed mutations in eight of eight cases with phenotypes of SMEI, in three of four cases with borderline SMEI, but not in two cases with Lennox-Gastaut syndrome.0.3709551272006SCN1A;LOC1027240582166002570AC
rs121917989NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046882AT,G
rs121917990173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A2166043836TC
rs121917990NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043836TC
rs121917993173472586323SCN1Aumls:C0751122UNIPROTThe relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.0.3709551272007SCN1A;LOC1027240582165994212GA
rs121918622107420946323SCN1Aumls:C0751122UNIPROTMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.0.3709551272000SCN1A;LOC1027240582165992332CT,A
rs121918623107420946323SCN1Aumls:C0751122UNIPROTMutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.0.3709551272000SCN1A2166038098GT,A
rs121918623189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A2166038098GT,A
rs121918624NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052882GA
rs121918625113592116323SCN1Aumls:C0751122UNIPROTDe novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.0.3709551272001SCN1A;LOC1027240582166036521GA
rs121918625NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A;LOC1027240582166036521GA
rs121918629125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165992149GA
rs121918630125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165994167CA
rs121918733NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058684AG
rs121918733204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A2166058684AG
rs121918734204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A2166058681AG
rs121918734NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058681AG
rs121918735NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051906GT,A
rs121918735204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A2166051906GT,A
rs121918736204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A2166037907GA
rs121918736NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037907GA
rs121918737NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037868AC
rs121918737204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A2166037868AC
rs121918738204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A;LOC1027240582166013820GT,A
rs121918739204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A;LOC1027240582166012210TG
rs121918740204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A;LOC1027240582166012128AG
rs121918741204316046323SCN1Aumls:C0751122UNIPROTAnalysis of SCN1A mutation and parental origin in patients with Dravet syndrome.0.3709551272010SCN1A;LOC1027240582165999763CT
rs121918742189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165994241CT,G
rs121918743125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166058646TC
rs121918744125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165992221GT,A
rs121918745125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166058618GA
rs121918746125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582166013756AT,G
rs121918747125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582166036523TA
rs121918748125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165991783AG
rs121918749125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166051890CA
rs121918750125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166037844TC
rs121918751125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165991841AC
rs121918752125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582166012199GC
rs121918753125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166048886CT
rs121918754125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166037787CT
rs121918755125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165992381GA
rs121918756125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582166036529AG
rs121918757125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582165991853AG
rs121918758125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A2166039590TA
rs121918759125662756323SCN1Aumls:C0751122UNIPROTHere we suggest that SMEI and ICEGTC represent a continuum with minor phenotypic and genotypic differences.0.3709551272003SCN1A;LOC1027240582166036445TA
rs121918760189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582166002655AT
rs121918761189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A2166058582AT
rs121918762189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A2166054669TA
rs121918763189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165991929GC,A
rs121918764205224306323SCN1Aumls:C0751122UNIPROTMechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.0.3709551272010SCN1A;LOC1027240582165996053AG
rs121918765189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165992284AT
rs121918766195897746323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.0.3709551272010SCN1A2166054728AT
rs121918767195897746323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.0.3709551272010SCN1A2166054717CT
rs121918768NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046931CA
rs121918768195897746323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.0.3709551272010SCN1A2166046931CA
rs121918770NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166054710CT,A
rs121918770128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166054710CT,A
rs121918771128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166051793GA
rs121918772128217406323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165998133GT
rs121918773NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166054672AG
rs121918773147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166054672AG
rs121918774147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166037920CG
rs121918775147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A2166037886GT,A
rs121918775159449086323SCN1Aumls:C0751122UNIPROTSevere myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps.0.3709551272005SCN1A2166037886GT,A
rs121918775NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037886GT,A
rs121918776147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A;LOC1027240582166002692AG
rs121918777147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A;LOC1027240582165992194TC
rs121918778147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A;LOC1027240582165992200AG
rs121918779147384216323SCN1Aumls:C0751122UNIPROTMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).0.3709551272004SCN1A;LOC1027240582165991933TC
rs121918780150871006323SCN1Aumls:C0751122UNIPROTClinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.0.3709551272004SCN1A2166051928AT
rs121918784165250506323SCN1Aumls:C0751122UNIPROTAn epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.0.3709551272006SCN1A2166039437GA
rs121918785NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039427CT
rs121918785201102176323SCN1Aumls:C0751122UNIPROTFour novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).0.3709551272010SCN1A2166039427CT
rs121918786201102176323SCN1Aumls:C0751122UNIPROTFour novel SCN1A mutations in Turkish patients with severe myoclonic epilepsy of infancy (SMEI).0.3709551272010SCN1A2166037862CT
rs121918787120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A2166038017AC
rs121918788NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037931GA
rs121918788120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A2166037931GA
rs121918789120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582165999761AG
rs121918790120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582165998165TC
rs121918791120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582165992333GA
rs121918792120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582165992255CG
rs121918793120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582165991549GA
rs121918794120837606323SCN1Aumls:C0751122UNIPROTSignificant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.0.3709551272002SCN1A;LOC1027240582166012194AG
rs121918795127547086323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166037905GC
rs121918796127547086323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.0.3709551272003SCN1A2166037847AG
rs121918797127547086323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165992293AG
rs121918798127547086323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.0.3709551272003SCN1A;LOC1027240582165992029CT
rs121918800164588236323SCN1Aumls:C0751122UNIPROTRecurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.0.3709551272006SCN1A;LOC1027240582166013757CG
rs121918803145043186323SCN1Aumls:C0751122UNIPROTThe rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI.0.3709551272003SCN1A;LOC1027240582166009745CG
rs121918804145043186323SCN1Aumls:C0751122UNIPROTThe rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI.0.3709551272003SCN1A;LOC1027240582165991632CT,G
rs121918805175072026323SCN1Aumls:C0751122UNIPROTThe SCN1A gene was screened for mutations in three unrelated Japanese families with generalized epilepsy with febrile seizure plus (GEFS+), febrile seizure with myoclonic seizures, or intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC).0.3709551272007SCN1A;LOC1027240582166002660CT
rs121918806195897746323SCN1Aumls:C0751122UNIPROTDe novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.0.3709551272010SCN1A;LOC1027240582165998166GT
rs121918808189309996323SCN1Aumls:C0751122UNIPROTSpectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.0.3709551272009SCN1A;LOC1027240582165994164CT
rs121918809195634586323SCN1Aumls:C0751122UNIPROTNovel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.0.3709551272010SCN1A;LOC1027240582165992009AC
rs121918810203926576323SCN1Aumls:C0751122UNIPROTHepatic coma culminating in severe brain damage in a child with a SCN1A mutation.0.3709551272010SCN1A;LOC1027240582165992365AT
rs121918816161226306323SCN1Aumls:C0751122UNIPROTA missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.0.3709551272005SCN1A;LOC1027240582165992137CT
rs138877187NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045081GA,T
rs397514459NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039428GC,A
rs398123579NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047769CG
rs398123580NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047635A-
rs398123584NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043946TC,A
rs398123585NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043875GT,A
rs398123588NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039436CT
rs398123588242776046323SCN1Aumls:C0751122BeFreeWe previously characterized two Nav1.1 mutants-R859H (GEFS+) and R865G (DS)-at room temperature and reported a mixture of biophysical gating defects that could not easily predict the phenotype presentation as either GEFS+ or DS.0.3709551272014SCN1A2166039436CT
rs727504140NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038134TC
rs727504142NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052847CG
rs760361423NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058645CA,T
rs764444350NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166073501TA,C
rs767045134NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041293TA,C
rs773407463NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051936AC,G
rs786200989NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039591-A
rs794726695NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047679A-
rs794726697NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038129GA
rs794726704NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166044045A-
rs794726708NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037843AC
rs794726711NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058616GT
rs794726712NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039424AC
rs794726713NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047721TC,A
rs794726714NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037774AC-
rs794726715NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037776C-
rs794726716NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037846CT
rs794726717NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045045-G
rs794726718NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037930CT,G
rs794726719NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052871CG
rs794726721NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037994GT
rs794726724NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166052884AGAA-
rs794726725NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046948AT
rs794726730NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166042334GA
rs794726732NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047661AT
rs794726736NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043974GA
rs794726738NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039488GC-
rs794726742NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041433CT,A
rs794726743NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041385CA
rs794726746NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A;LOC1027240582166036492AC
rs794726747NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166042397TA
rs794726749NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045042CA
rs794726750NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041343-GGTC
rs794726751NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051932T-
rs794726753NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047651GT
rs794726755NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051955GT
rs794726756NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A;LOC1027240582166036411TCCTT-
rs794726761NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038032AG
rs794726762NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166073353CT,G
rs794726764NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166056501GC
rs794726765NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047626CA
rs794726766NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041343GA
rs794726767NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047741CA-
rs794726768NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047749TC
rs794726771NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051914AG
rs794726772NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037775CA
rs794726773NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045040TC
rs794726775NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039420TA
rs794726776NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046963GC-
rs794726777NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046964-T
rs794726778NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043878GA
rs794726782NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047764AG
rs794726786NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038107GT
rs794726787NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038119T-
rs794726788NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051778CCATTATAAT-
rs794726790NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045189GA
rs794726791NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166073437G-
rs794726792NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047682AAAGCCCAACTGAAGGTATC-
rs794726793NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058630AG
rs794726794NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039475TC
rs794726795NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166042289AT
rs794726796NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058661CCTT-
rs794726797NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166048889GA
rs794726798NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166048907CT
rs794726799NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047668GA
rs794726803NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058569TC
rs794726805NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166039533AC
rs794726806NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166042368G-
rs794726807NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046802CA
rs794726808NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037844TACAGTCCCA-
rs794726810NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046846A-
rs794726811NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037942CA
rs794726812NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051857-TATAC
rs794726813NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A;LOC1027240582166036460T-
rs794726815NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166038044AT
rs794726818NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046949TG-
rs794726820NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166041327-A
rs794726823NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037819CA
rs794726824NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166048950CT
rs794726826NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166046888GA
rs794726827NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166054637CT,G,A
rs794726828NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037793CT
rs794726829NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166045263TCTG-
rs794726830NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A;LOC1027240582166036496GA-
rs794726831NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166058573TA
rs794726833NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166054635TG
rs794726834NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043908CA
rs794726837NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051705AC
rs794726838NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166043742GA
rs794726840NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166056410CG
rs794726842NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166037786CT
rs794726843NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166048890CA
rs794726844NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166047751TC
rs794726846NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051751-CA
rs794726847NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166051857TG
rs794726848NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166073552CT
rs794726849NA6323SCN1Aumls:C0751122CLINVARNA0.370955127NASCN1A2166056451TC
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:10)
HP ID HP Name MP ID MP Name Annotation
HP:0002197Generalized seizuresMP:0009358environmentally induced seizuresseizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
HP:0000992Cutaneous photosensitivityMP:0001202skin photosensitivityabnormally heightened reactivity of the skin to sunlight
HP:0002121Absence seizuresMP:0009358environmentally induced seizuresseizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
HP:0002384Focal seizures with impairment of consciousness or awarenessMP:0004686decreased length of long bonesreduced end-to-end length of the several elongated bones of the extremities
HP:0002123Generalized myoclonic seizuresMP:0009358environmentally induced seizuresseizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
HP:0001263Global developmental delayMP:0002084abnormal developmental patterningabnormal systematic arrangement of the developing body along an axis
HP:0001252Muscular hypotoniaMP:0004144hypotoniadecreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness
HP:0007334Bilateral convulsive seizuresMP:0009358environmentally induced seizuresseizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
HP:0002266Focal clonic seizuresMP:0003996clonic seizuresincreased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle
HP:0002373Febrile seizuresMP:0009358environmentally induced seizuresseizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage
Mapped by homologous gene(Total Items:15)
HP ID HP Name MP ID MP Name Annotation
HP:0001252Muscular hypotoniaMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001263Global developmental delayMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002123Generalized myoclonic seizuresMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0000992Cutaneous photosensitivityMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0001337TremorMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002353EEG abnormalityMP:0020214susceptible to malignant hyperthermiaincreased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000708Behavioral abnormalityMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0007334Bilateral convulsive seizuresMP:0014142increased body fat massincreased physical bulk or volume of fat in the whole body
HP:0002266Focal clonic seizuresMP:0011110preweaning lethality, incomplete penetrancethe appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)
HP:0002121Absence seizuresMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0001251AtaxiaMP:0020301short tonguedecreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0002373Febrile seizuresMP:0020157abnormal behavioral response to alcoholany anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0002197Generalized seizuresMP:0013603abnormal fetal Leydig cell differentiationatypical formation of or inability to produce the first or fetal population of Leydig cells (FLCs); in mice, FLCs arise in the testicular interstitium between E12.5 and E13.0, approximately 1 day after the appearance of Sertoli cells; Sertoli cells trigge
HP:0002384Focal seizures with impairment of consciousness or awarenessMP:0013906absent embryonic telencephalonabsence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops
Disease ID 267
Disease dravet syndrome
Case(Waiting for update.)