PedAM

Pediatric Disease Annotations & Medicines


	juvenile absence epilepsy

Disease ID	379
Disease	juvenile absence epilepsy
Definition	A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Synonym	absence epilepsies, childhood absence epilepsies, juvenile absence epilepsy, childhood absence epilepsy, juvenile absence seizure dis absence seizure disorders childhood - juvenile - absence epilepsy childhood absence epilepsies childhood absence epilepsy (disorder) childhood absence seizures convulsion, petit mal epilepsies, childhood absence epilepsies, juvenile absence epilepsy juvenile absence epilepsy juvenile absences epilepsy, absence epilepsy, absence [disease/finding] epilepsy, childhood absence epilepsy, juvenile absence juvenile absence epilepsies juvenile absence epilepsy (disorder) juvenile absence, epilepsy juvenile absences, epilepsy minor epilepsies petit mal epilepsies pykno epilepsy pykno-epilepsies pyknolepsies seizure dis absence seizure disorder, absence seizure disorders, absence seizure, absence
Orphanet	ORPHANET:1941
DOID	DOID:0060172
UMLS	C4281785
MeSH	D004832
SNOMED-CT	SNOMEDCT_US_2016_09_01:50866000;SNOMEDCT_US_2016_09_01:230413002
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) EFHC1 \| 114327 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2562 \| GABRB3 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:38) 10368 \| CACNG3 \| DISEASES 2554 \| GABRA1 \| DISEASES 2703 \| GJA8 \| DISEASES 3623 \| INHA \| DISEASES 80896 \| NPL \| DISEASES 5443 \| POMC \| DISEASES 1181 \| CLCN2 \| DISEASES 24148 \| PRPF6 \| DISEASES 3358 \| HTR2C \| DISEASES 6326 \| SCN2A \| DISEASES 483 \| ATP1B3 \| DISEASES 1142 \| CHRNB3 \| DISEASES 70 \| ACTC1 \| DISEASES 55832 \| CAND1 \| DISEASES 2562 \| GABRB3 \| DISEASES 81603 \| TRIM8 \| DISEASES 51305 \| KCNK9 \| DISEASES 5315 \| PKM \| DISEASES 2903 \| GRIN2A \| DISEASES 5813 \| PURA \| DISEASES 8912 \| CACNA1H \| DISEASES 2558 \| GABRA5 \| DISEASES 124454 \| EARS2 \| DISEASES 5169 \| ENPP3 \| DISEASES 8913 \| CACNA1G \| DISEASES 773 \| CACNA1A \| DISEASES 1137 \| CHRNA4 \| DISEASES 114327 \| EFHC1 \| DISEASES 57126 \| CD177 \| DISEASES 3356 \| HTR2A \| DISEASES 415 \| ARSE \| DISEASES 2897 \| GRIK1 \| DISEASES 23327 \| NEDD4L \| DISEASES 2898 \| GRIK2 \| DISEASES 2263 \| FGFR2 \| DISEASES 2566 \| GABRG2 \| DISEASES 6513 \| SLC2A1 \| DISEASES 6949 \| TCOF1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) EFHC1 \| 6p12.2

Disease ID	379
Disease	juvenile absence epilepsy
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:12) HP:0002123 \| Myoclonus seizures HP:0000153 \| Abnormality of the mouth HP:0002121 \| Petit mal seizures HP:0007193 \| Morning generalized tonic-clonic seizures HP:0001336 \| Myoclonus HP:0002121 \| Absence seizures HP:0002392 \| EEG with polyspike wave complexes HP:0002373 \| Febrile seizures HP:0002069 \| Generalized tonic-clonic seizures HP:0000496 \| Abnormality of eye movement HP:0002197 \| Generalized seizures HP:0010849 \| EEG with spike-wave complexes (>3.5 Hz)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0001250 \| Seizures \| 1

Disease ID	379
Disease	juvenile absence epilepsy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

All Snps(Total Genotypes:0)
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GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:16)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C4281785	carbamazepine	D002220	298-46-4	epilepsy, absence	MESH:D004832	marker/mechanism	10897162
C4281785	ethosuximide	D005013	77-67-8	epilepsy, absence	MESH:D004832	therapeutic	20200383
C4281785	haloperidol	D006220	52-86-8	epilepsy, absence	MESH:D004832	therapeutic	9681765
C4281785	lamotrigine	C047781	84057-84-1	epilepsy, absence	MESH:D004832	therapeutic	20200383
C4281785	leuprolide	D016729	53714-56-0	epilepsy, absence	MESH:D004832	marker/mechanism	11033292
C4281785	phenytoin	D010672	57-41-0	epilepsy, absence	MESH:D004832	marker/mechanism	10897162
C4281785	phenytoin	D010672	57-41-0	epilepsy, absence	MESH:D004832	therapeutic	6081207
C4281785	picrotoxin	D010852	124-87-8	epilepsy, absence	MESH:D004832	therapeutic	12429195
C4281785	pilocarpine	D010862	92-13-7	epilepsy, absence	MESH:D004832	marker/mechanism	18455911
C4281785	progesterone	D011374	57-83-0	epilepsy, absence	MESH:D004832	marker/mechanism	1344329
C4281785	promazine	D011395	58-40-2	epilepsy, absence	MESH:D004832	therapeutic	9681765
C4281785	riluzole	D019782	1744-22-5	epilepsy, absence	MESH:D004832	therapeutic	17507170
C4281785	trimethadione	D014293	127-48-0	epilepsy, absence	MESH:D004832	therapeutic	409014
C4281785	valproic acid	D014635	99-66-1	epilepsy, absence	MESH:D004832	marker/mechanism	11488896
C4281785	valproic acid	D014635	99-66-1	epilepsy, absence	MESH:D004832	therapeutic	14629913
C4281785	vigabatrin	D020888	60643-86-9	epilepsy, absence	MESH:D004832	marker/mechanism	12536034

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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