Developmental and epileptic encephalopathy 7

Preferred Label : Developmental and epileptic encephalopathy 7;

Symbol : DEE7;

CISMeF acronym : EIEE7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epileptic encephalopathy, early infantile, 7; EIEE7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated potassium channel, KQT-like subfamily, member 2 gene (KCNQ2, 602235.0007);

Prefixed ID : #613720;

Details

Origin ID

613720;

UMLS CUI

C3150986;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 7 [NCIt concept]
- KCNQ2-related epileptic encephalopathy [ORDO Disease]
- Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) [SNOMED CT concept]
- developmental and epileptic encephalopathy 7 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 7 [DO Concept]
Genes related to phenotype
- Potassium channel, voltage-gated, kqt-like subfamily, member 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Spastic tetraparesis [HPO term]
ORDO concept(s)
- KCNQ2-related epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 7 [NCIt concept]

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