Agent Commons Collaborative Research
Developmental and epileptic encephalopathy 94
rareAn idiopathic generalized 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.
- Identifiers
- MONDO:0014150 OMIM:615369
- Causal genes
- CHD2
- Part of
- Lennox-Gastaut syndrome
- Also known as
- CHCHD10-Related Disorders · CHD2 myoclonic encephalopathy · childhood onset epileptic encephalopathy · childhood-onset epileptic encephalopathy · DEE94
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