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Metadata
ID DOID:0080442
Name developmental and epileptic encephalopathy 41
Definition A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13.
https://www.ncbi.nlm.nih.gov/pubmed/27476654
Xrefs

OMIM:617105

Synonyms

DEE41 [EXACT]

early infantile epileptic encephalopathy 41 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

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