Developmental and epileptic encephalopathy 52

Preferred Label : Developmental and epileptic encephalopathy 52;

Symbol : DEE52;

CISMeF acronym : EIEE52;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 52; EIEE52;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type I, beta subunit gene (SCN1B, 600235.0008);

Prefixed ID : #617350;

Details

Origin ID

617350;

UMLS CUI

C4479236;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 52 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 52 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, beta subunit 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Atypical absence seizure [HPO term]
- Autosomal recessive inheritance [HPO term]
- Developmental stagnation [HPO term]
- Epileptic encephalopathy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Focal hemiclonic seizure [HPO term]
- Generalized hypotonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global developmental delay [HPO term]
- Limb ataxia [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- developmental and epileptic encephalopathy 52 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients