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	juvenile myoclonic epilepsy

Disease ID	268
Disease	juvenile myoclonic epilepsy
Definition	A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Synonym	adolescent myoclonic epilepsies adolescent myoclonic epilepsy ejm epilepsies, adolescent myoclonic epilepsies, juvenile myoclonic epilepsy juvenile myoclonic epilepsy, adolescent myoclonic epilepsy, juvenile myoclonic epilepsy, myoclonic juvenile epilepsy, myoclonic, juvenile impulsive petit mal epilepsy impulsive petit mal of janz impulsive petit mal, janz impulsive petit-mal epilepsy janz impulsive petit mal janz juvenile myoclonic epilepsy janz syndrome jme jme (juvenile myoclonic epilepsy) jme - juvenile myoclonic epilepsy jmes (juvenile myoclonic epilepsy) juvenile myoclonic epilepsies juvenile myoclonic epilepsy (disorder) juvenile myoclonic epilepsy of janz myoclonic epilepsies, adolescent myoclonic epilepsies, juvenile myoclonic epilepsy of adolescence myoclonic epilepsy, adolescent myoclonic epilepsy, juvenile myoclonic epilepsy, juvenile [disease/finding] myoclonic epilepsy, juvenile, 1 petit mal, impulsive petit mal, impulsive, janz petit mals, impulsive syndrome, janz
Orphanet	ORPHANET:307
OMIM	OMIM:254770
DOID	DOID:4890
UMLS	C0270853
MeSH	D020190
SNOMED-CT	SNOMEDCT_US_2016_09_01:6204001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0014544 \| epilepsy \| 3 C0014556 \| temporal lobe epilepsy \| 2 C0038220 \| status epilepticus \| 2 C0037317 \| sleep disturbances \| 1 C0026846 \| muscular atrophy \| 1 C0497327 \| dementia \| 1 C0026769 \| multiple sclerosis \| 1 C0238111 \| lennox-gastaut syndrome \| 1 C0037317 \| sleep disturbance \| 1 C0026847 \| spinal muscular atrophy \| 1 C0270850 \| idiopathic generalized epilepsy \| 1 C0031212 \| personality disorders \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:8) 3786 \| KCNQ3 \| ORPHANET;UNIPROT 1181 \| CLCN2 \| CTD_human;ORPHANET;GHR 2554 \| GABRA1 \| CTD_human;GHR;UNIPROT;ORPHANET 8629 \| JRK \| CTD_human;ORPHANET;UNIPROT 785 \| CACNB4 \| CTD_human;GHR;UNIPROT;ORPHANET 114327 \| EFHC1 \| CTD_human;GHR;UNIPROT;ORPHANET 2563 \| GABRD \| ORPHANET;GHR 50715 \| EJM2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:12) 114327 \| EFHC1 \| CIPHER;CTD_human 2554 \| GABRA1 \| CIPHER;CTD_human 6046 \| BRD2 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3786 \| KCNQ3 \| CIPHER 1137 \| CHRNA4 \| CIPHER 449018 \| EJM3 \| CTD_human 50715 \| EJM2 \| CTD_human 100126594 \| EJM4 \| CTD_human 1181 \| CLCN2 \| CTD_human 8629 \| JRK \| CTD_human 785 \| CACNB4 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:73) 310 \| ANXA7 \| 1.396 \| DISEASES 415 \| ARSE \| 1.426 \| DISEASES 170302 \| ARX \| 1.8 \| DISEASES 633 \| BGN \| 1.151 \| DISEASES 6046 \| BRD2 \| 4.734 \| DISEASES 773 \| CACNA1A \| 1.576 \| DISEASES 8913 \| CACNA1G \| 1.693 \| DISEASES 8912 \| CACNA1H \| 1.862 \| DISEASES 785 \| CACNB4 \| 4.663 \| DISEASES 11335 \| CBX3 \| 2.166 \| DISEASES 57126 \| CD177 \| 1.28 \| DISEASES 1059 \| CENPB \| 1.684 \| DISEASES 1137 \| CHRNA4 \| 3.53 \| DISEASES 1139 \| CHRNA7 \| 3.166 \| DISEASES 1363 \| CPE \| 1.17 \| DISEASES 56259 \| CTNNBL1 \| 3.106 \| DISEASES 1759 \| DNM1 \| 1.619 \| DISEASES 124454 \| EARS2 \| 1.98 \| DISEASES 114327 \| EFHC1 \| 7.757 \| DISEASES 80258 \| EFHC2 \| 3.189 \| DISEASES 60481 \| ELOVL5 \| 2.232 \| DISEASES 5169 \| ENPP3 \| 1.193 \| DISEASES 2173 \| FABP7 \| 1.819 \| DISEASES 2550 \| GABBR1 \| 3.035 \| DISEASES 2558 \| GABRA5 \| 2.313 \| DISEASES 2563 \| GABRD \| 4.486 \| DISEASES 2566 \| GABRG2 \| 4.479 \| DISEASES 2741 \| GLRA1 \| 2.255 \| DISEASES 2825 \| GPR1 \| 2.742 \| DISEASES 2898 \| GRIK2 \| 1.788 \| DISEASES 2914 \| GRM4 \| 3.828 \| DISEASES 2941 \| GSTA4 \| 2.099 \| DISEASES 2987 \| GUK1 \| 2.351 \| DISEASES 3106 \| HLA-B \| 1.569 \| DISEASES 3736 \| KCNA1 \| 2.491 \| DISEASES 3766 \| KCNJ10 \| 1.408 \| DISEASES 3785 \| KCNQ2 \| 2.062 \| DISEASES 3786 \| KCNQ3 \| 4.107 \| DISEASES 9211 \| LGI1 \| 3.93 \| DISEASES 55227 \| LRRC1 \| 4.375 \| DISEASES 4200 \| ME2 \| 4.276 \| DISEASES 219541 \| MED19 \| 2.277 \| DISEASES 4566 \| MT-TK \| 1.79 \| DISEASES 9961 \| MVP \| 1.484 \| DISEASES 23327 \| NEDD4L \| 1.611 \| DISEASES 4771 \| NF2 \| 1.23 \| DISEASES 85315 \| PAQR8 \| 4.377 \| DISEASES 5080 \| PAX6 \| 1.57 \| DISEASES 8863 \| PER3 \| 1.738 \| DISEASES 51400 \| PPME1 \| 2.733 \| DISEASES 5528 \| PPP2R5D \| 3.276 \| DISEASES 5813 \| PURA \| 2.127 \| DISEASES 6005 \| RHAG \| 1.418 \| DISEASES 6324 \| SCN1B \| 3.3 \| DISEASES 5270 \| SERPINE2 \| 1.487 \| DISEASES 6560 \| SLC12A4 \| 2.822 \| DISEASES 57468 \| SLC12A5 \| 1.617 \| DISEASES 9990 \| SLC12A6 \| 3.175 \| DISEASES 151295 \| SLC23A3 \| 4.186 \| DISEASES 9481 \| SLC25A27 \| 2.55 \| DISEASES 6513 \| SLC2A1 \| 2.616 \| DISEASES 6635 \| SNRPE \| 2.861 \| DISEASES 9900 \| SV2A \| 2.463 \| DISEASES 6949 \| TCOF1 \| 1.715 \| DISEASES 202500 \| TCTE1 \| 3.36 \| DISEASES 7021 \| TFAP2B \| 2.043 \| DISEASES 7415 \| VCP \| 1.768 \| DISEASES 7444 \| VRK2 \| 2.634 \| DISEASES 7453 \| WARS \| 2.257 \| DISEASES 10810 \| WASF3 \| 1.798 \| DISEASES 7478 \| WNT8A \| 2.729 \| DISEASES 9589 \| WTAP \| 2.685 \| DISEASES 26036 \| ZNF451 \| 2.323 \| DISEASES
Locus	Symbol \| Locus(Total Locus:7) JRK \| 8q24.3 KCNQ3 \| 8q24.22 CLCN2 \| 3q27.1 GABRA1 \| 5q34 GABRD \| 1p36.33 EFHC1 \| 6p12.2 CACNB4 \| 2q23.3

Disease ID	268
Disease	juvenile myoclonic epilepsy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001250 \| Seizures \| 11 HP:0002069 \| Generalized tonic clonic seizures \| 4 HP:0002133 \| Status epilepticus \| 2 HP:0002104 \| Absence of spontaneous respiration \| 1 HP:0011182 \| Epileptiform EEG discharges \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0000975 \| Increased sweating \| 1 HP:0012075 \| Personality disorder \| 1 HP:0007269 \| Spinal muscle wasting \| 1 HP:0000726 \| Dementia \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0007410 \| Excessive sweating of palms and soles \| 1 HP:0002315 \| Headaches \| 1 HP:0000708 \| Behavioral problems \| 1 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 1 HP:0010819 \| drop attacks \| 1

Disease ID	268
Disease	juvenile myoclonic epilepsy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:8) C0235169 \| excitability C0234535 \| clonic seizures C0038220 \| status epilepticus C0036572 \| seizures C0027066 \| myoclonic jerks C0014553 \| absence seizures C0014550 \| myoclonic seizures C0014544 \| epileptic seizures
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0234535 \| clonic seizures \| 11 C0036572 \| seizures \| 7 C0014550 \| myoclonic seizures \| 6 C0038220 \| status epilepticus \| 2

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:11)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1045642	24586633	5243	ABCB1	umls:C0270853	BeFree	However, a significant association was observed between ABCB1 (C3435T) rs1045642 and risk of having epilepsy (MTLE-HS and JME pooled cohort; genotypic p-value = 0.0002; allelic p-value = 0.004).	0.000271442	2014	ABCB1	7	87509329	A	T,G
rs121434579	14631097	2554	GABRA1	umls:C0270853	BeFree	Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.	0.248815624	2003	GABRA1	5	161895774	C	A
rs121434579	16029191	2554	GABRA1	umls:C0270853	BeFree	The first mutation in a multigeneration JME family has been recently found in the alpha1-subunit of the GABAA receptor (GABRA1), predicting the single amino acid substitution A322D.	0.248815624	2005	GABRA1	5	161895774	C	A
rs121918817	12610651	6323	SCN1A	umls:C0270853	BeFree	R542Q in SCN1A was observed in one autism family and had previously been identified in a patient with juvenile myoclonic epilepsy.	0.002995792	2003	SCN1A	2	166045080	C	T
rs137852776	22690745	114327	EFHC1	umls:C0270853	BeFree	The mutation, Phe229Leu in the EFHC1 gene was previously shown, in a carrier state, to be associated with juvenile myoclonic epilepsy.	0.464036231	2012	EFHC1	6	52452799	T	C
rs149055334	15258581	114327	EFHC1	umls:C0270853	UNIPROT	Mutations in EFHC1 cause juvenile myoclonic epilepsy.	0.464036231	2004	EFHC1	6	52424111	C	A
rs1799963	25992517	2147	F2	umls:C0270853	BeFree	Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy.	0.000271442	2014	F2	11	46739505	G	A
rs1805032	22892567	785	CACNB4	umls:C0270853	BeFree	The human R482X CACNB4 mutation, responsible for a form of juvenile myoclonic epilepsy, prevents association with Ppp2r5 and nuclear targeting of the complex by altering Cacnb4 conformation.	0.240542884	2012	CACNB4	2	151839238	G	A
rs211037	24061200	2566	GABRG2	umls:C0270853	BeFree	A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.08) and genotypic (P=0.001) association of a synonymous variant in GABRG2, rs211037 (Asn196Asn) was observed with epilepsy irrespective of its phenotype, that is, MTLE-HS or juvenile myoclonic epilepsy.	0.000814326	2014	GABRG2	5	162101274	C	T
rs45442394	19577488	1137	CHRNA4	umls:C0270853	GAD	[The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.]	0.003452799	2009	CHRNA4	20	63349642	G	A
rs79761183	22926142	114327	EFHC1	umls:C0270853	UNIPROT	Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.	0.464036231	2012	EFHC1	6	52452776	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	268
Disease	juvenile myoclonic epilepsy
Case	(Waiting for update.)

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