Juvenile Absence Epilepsy malady

Disease Ontology: An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.⁶

MalaCards: Juvenile Absence Epilepsy, also known as epilepsy juvenile absence, is related to childhood absence epilepsy and absence epilepsy. An important gene associated with Juvenile Absence Epilepsy is EFHC1 (EF-hand domain (C-terminal) containing 1). The drugs trimethadione and divalproex and the compound gaba have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and nervous system.

Wikipedia: Juvenile myoclonic epilepsy (JME), also known as Janz syndrome, is a fairly common form of idiopathic...⁴⁴ more...

juvenile absence epilepsy 6 30 8 epilepsy juvenile absence 30 43 childhood absence epilepsy 30

absence epilepsy 43 jae 30

Disease types for juvenile absence epilepsy family:

epilepsy, juvenile absence, susceptibility to, 1	epilepsy, juvenile absence, susceptibility to, 2

Diseases related to juvenile absence epilepsy by text searches and GeneDecks gene sharing:

(show all 22)

id	Related Disease	Score	Top Affiliating Genes
1	childhood absence epilepsy	35.5	CLCN2, GRIK1
2	absence epilepsy	28.5	CHRNB3, EFHC1, ALDH5A1, GRIK1, CLCN2
3	seizures	27.4	EFHC1, ALDH5A1, GRIK1, CLCN2
4	juvenile myoclonic epilepsy	26.8	CLCN2, EFHC1
5	neuronitis	25.8	CLCN2, GRIK1, ALDH5A1, EFHC1, CHRNB3
6	idiopathic generalized epilepsy	12.5	ALDH5A1, EFHC1
7	epilepsy syndrome	12.2	ALDH5A1, CLCN2
8	generalized epilepsy with febrile seizures plus	12.1	EFHC1, ALDH5A1, CLCN2
9	epilepsy, juvenile absence, susceptibility to, 1	8.2
10	epilepsy, juvenile absence, susceptibility to, 2	8.2
11	early onset absence epilepsy	7.8
12	febrile seizures	7.5
13	succinic semialdehyde dehydrogenase deficiency	6.8
14	convulsions	6.6
15	epilepsy, childhood absence, 1	6.6
16	febrile convulsions	6.6
17	twinning	6.6
18	ataxia	5.7
19	cramps	5.7
20	episodic ataxia	5.7
21	migraine	5.7
22	migraine with aura	5.7

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 clonazepam, divalproex, divalproex sodium, ethosuximide, mephobarbital, methsuximide, phensuximide, trimethadione, valproate sodium, valproic acid

MGI Mouse Phenotypes related to juvenile absence epilepsy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	INF	, GRIK1, ALDH5A1, EFHC1, CHRNB3
2	nervous system phenotype	MP:0003631	INF	, GRIK1, ALDH5A1, EFHC1

Articles related to juvenile absence epilepsy:

id	Title	Authors	Year	Affiliating Genes
1	Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. (15582027)	Cortez M.A.... Snead O.C.	2004	ALDH5A1
2	Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure. (11920863)	Izzi C.... Barlati S.	2002	GRIK1
3	Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. (9259378)	Sander T.... Janz D.	1997	GRIK1

Genes related to juvenile absence epilepsy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	EFHC1	EF-hand domain (C-terminal) containing 1	11.1	Summaries
2	ALDH5A1	aldehyde dehydrogenase 5 family, member A1	11.0	Publications
3	CHRNB3	cholinergic receptor, nicotinic, beta 3 (neuronal)	11.0
4	GRIK1	glutamate receptor, ionotropic, kainate 1	11.0	Publications

Compounds related to juvenile absence epilepsy according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	gaba32 42	10.3	GRIK1, ALDH5A1

Cellular components related to juvenile absence epilepsy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	postsynaptic membrane	GO:045211	9.1	GRIK1, CHRNB3

Biological processes related to juvenile absence epilepsy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	central nervous system development	GO:007417	9.3	GRIK1, ALDH5A1
2	synaptic transmission	GO:007268	8.2	GRIK1, ALDH5A1, CHRNB3
3	transport	GO:006810	INF	, GRIK1, CHRNB3