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Metadata
ID DOID:0060475
Name myoclonic-atonic epilepsy
Definition An 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 and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
https://www.ncbi.nlm.nih.gov/books/NBK589173/, https://www.ncbi.nlm.nih.gov/pubmed/23708187, https://www.ncbi.nlm.nih.gov/pubmed/24207121
Xrefs

OMIM:616421

Synonyms

childhood onset epileptic encephalopathy [EXACT]

EEOC [EXACT]

Parent Relationships

is_a idiopathic generalized epilepsy

is_a autosomal dominant disease

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