Developmental and epileptic encephalopathy 13

Preferred Label : Developmental and epileptic encephalopathy 13;

Symbol : DEE13;

CISMeF acronym : EIEE13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 13; EIEE13;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type VIII, alpha subunit gene (SCN8A, 600702.0002);

Prefixed ID : #614558;

Details

Origin ID

614558;

UMLS CUI

C3281191;

Automatic exact mappings (from CISMeF team)
- Early infantile epileptic encephalopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 13 [NCIt concept]
- Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 13 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 13 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 8 [OMIM gene]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Epileptic encephalopathy [HPO term]
- Epileptic spasm [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Progressive microcephaly [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 13 [NCIt concept]
- Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients