Developmental and epileptic encephalopathy 42

Preferred Label : Developmental and epileptic encephalopathy 42;

Symbol : DEE42;

CISMeF acronym : EIEE42;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE42; Epileptic encephalopathy, early infantile, 42;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, P/Q type, alpha-1A subunit gene (CACNA1A, 601011.0017);

Prefixed ID : #617106;

Details

Origin ID

617106;

UMLS CUI

C4310716;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 42 [NCIt concept]
- developmental and epileptic encephalopathy 42 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 42 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, p/q type, alpha-1a subunit [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Ataxia [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- EEG abnormality [HPO term]
- Epileptic encephalopathy [HPO term]
- Esotropia [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Tremor [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 42 [NCIt concept]

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