Developmental and epileptic encephalopathy 11

Preferred Label : Developmental and epileptic encephalopathy 11;

Symbol : DEE11;

CISMeF acronym : EIEE11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 11; EIEE11;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated, type II sodium channel, alpha subunit (SCN2A, 182390.0008);

Prefixed ID : #613721;

Details

Origin ID

613721;

UMLS CUI

C3150987;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 11 [NCIt concept]
- developmental and epileptic encephalopathy 11 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 11 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Epileptic encephalopathy [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Spastic tetraplegia [HPO term]
- Status epilepticus [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- Early infantile epileptic encephalopathy [ORDO Disease]
- SCN2A wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 11 [NCIt concept]

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