Developmental and epileptic encephalopathy 19

Preferred Label : Developmental and epileptic encephalopathy 19;

Symbol : DEE19;

CISMeF acronym : EIEE19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 19; EIEE19;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gamma-aminobutyric acid receptor, alpha-1 gene (137160.0003);

Prefixed ID : #615744;

Details

Origin ID

615744;

UMLS CUI

C3810400;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 19 [NCIt concept]
- developmental and epileptic encephalopathy 19 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 19 [DO Concept]
Genes related to phenotype
- Gamma-aminobutyric acid receptor, alpha-1 [OMIM gene]
HPO term(s)
- Atonic seizure [HPO term]
- Autosomal dominant inheritance [HPO term]
- EEG with photoparoxysmal response [HPO term]
- EEG with spike-wave complexes [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]
- Focal impaired awareness seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Myoclonic seizure [HPO term]
- Status epilepticus [HPO term]
ORDO concept(s)
- Dravet syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 19 [NCIt concept]

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