Developmental and epileptic encephalopathy 94

Preferred Label : Developmental and epileptic encephalopathy 94;

Symbol : DEE94;

CISMeF acronym : EEOC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EEOC; Epileptic encephalopathy, childhood-onset;

Description : Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the chromodomain helicase DNA-binding protein 2 gene (CHD2, 602119.0001);

Prefixed ID : #615369;

Details

Origin ID

615369;

UMLS CUI

C3809278;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 94 [NCIt concept]
- childhood onset epileptic encephalopathy [DO Concept]
DO Cross reference
- childhood onset epileptic encephalopathy [DO Concept]
Genes related to phenotype
- Chromodomain helicase dna-binding protein 2 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Childhood onset [HPO term]
- Developmental regression [HPO term]
- EEG with generalized polyspikes [HPO term]
- EEG with generalized spikes [HPO term]
- Epileptic encephalopathy [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Multifocal epileptiform discharges [HPO term]
- Status epilepticus [HPO term]
- Status epilepticus without prominent motor symptoms [HPO term]
- Tonic seizure [HPO term]
- Visually-induced seizure [HPO term]
ORDO concept(s)
- Lennox-Gastaut syndrome [ORDO Disease]
- Myoclonic-astatic epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 94 [NCIt concept]
- childhood onset epileptic encephalopathy [DO Concept]

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