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Metadata
ID DOID:0080445
Name developmental and epileptic encephalopathy 13
Definition A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13.
https://www.ncbi.nlm.nih.gov/pubmed/22365152, https://pubmed.ncbi.nlm.nih.gov/24888894/
Xrefs

MIM:614558
Synonyms

DEE13 [EXACT]

early infantile epileptic encephalopathy 13 [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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