Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607682 http://purl.bioontology.org/ontology/OMIM/607682
Preferred Name	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
Synonyms	EJM6 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6 EIG9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EJM6 EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6 EIG9
prefLabel	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
Gene Symbol	EIG9 EJM6 CACNB4 EA5
Scope Statement	Accounts for approximately 5% of the epilepsies [MISCELLANEOUS] Genetic heterogeneity [MISCELLANEOUS] Susceptibility conferred by mutation in the voltage-gated calcium channel beta-4 subunit gene (CACNB4, 601949.0001). [MOLECULAR BASIS] Precipitated by fatigue or alcohol [MISCELLANEOUS] Onset 8-20 years [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU025305 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU003725 http://purl.bioontology.org/ontology/OMIM/MTHU003726 http://purl.bioontology.org/ontology/OMIM/MTHU003724 See more See less
tui	T033
Gene Locus	2q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607682
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C2750887 C2750888
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display