Developmental and epileptic encephalopathy 17

Preferred Label : Developmental and epileptic encephalopathy 17;

Symbol : DEE17;

CISMeF acronym : EIEE17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE17; Epileptic encephalopathy, early infantile, 17;

Description : Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide O gene (GNAO1, 139311.0001);

Prefixed ID : #615473;

Details

Origin ID

615473;

UMLS CUI

C3809606;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 17 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 17 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-activating activity polypeptide o [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Delayed myelination [HPO term]
- Dystonia [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized tonic seizure [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypsarrhythmia [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
See also inter- (CISMeF)
- GNAO1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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