Epilepsy, childhood absence, susceptibility to, 6

Preferred Label : Epilepsy, childhood absence, susceptibility to, 6;

Symbol : ECA6;

CISMeF acronym : ECA6; EIG6;

Type : Phenotype, molecular basis known;

Included titles and symbols : Epilepsy, idiopathic generalized, susceptibility to, 6; EIG6;

Description : Childhood absence epilepsy is a subtype of idiopathic generalized epilepsy. For a general phenotypic description and a discussion of genetic heterogeneity of childhood absence epilepsy and idiopathic generalized epilepsy, see ECA1 (600131) and (600669), respectively.;

Prefixed ID : #611942;

Détails

Origin ID

611942;

UMLS CUI

C2749872;

Genes related to phenotype
- Calcium channel, voltage-dependent, t type, alpha-1h subunit [OMIM gene]
ORDO concept(s)
- Childhood absence epilepsy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
Validated automatic mappings to NTBT
- Childhood absence epilepsy [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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