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Metadata
ID DOID:0112215
Name developmental and epileptic encephalopathy 79
Definition A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12.
https://pubmed.ncbi.nlm.nih.gov/29961870/, https://pubmed.ncbi.nlm.nih.gov/31056671/
Xrefs

MIM:618559
Synonyms

DEE79 [EXACT]

early infantile epileptic encephalopathy 79 [EXACT]
Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease
Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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