Epilepsy, idiopathic generalized, susceptibility to, 16

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 16;

Symbol : EIG16;

CISMeF acronym : EIG16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 gene (KCNMA1, 600150.0006);

Prefixed ID : #618596;

Détails

Origin ID

618596;

UMLS CUI

C5231421;

Genes related to phenotype
- Potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Atypical absence seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- Global developmental delay [HPO term]
- Microcephaly [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Myoclonic absence seizure [HPO term]
- Myoclonic seizure [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Paroxysmal dyskinesia [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

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