Epilepsy, idiopathic generalized, susceptibility to, 12

Preferred Label : Epilepsy, idiopathic generalized, susceptibility to, 12;

Symbol : EIG12;

CISMeF acronym : EIG12;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, 138140.0019);

Prefixed ID : #614847;

Details

Origin ID

614847;

UMLS CUI

C3553859;

Currated CISMeF NLP mapping
- idiopathic generalized epilepsy 12 [DO Concept]
DO Cross reference
- idiopathic generalized epilepsy 12 [DO Concept]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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