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Metadata
ID DOID:0081115
Name benign familial infantile seizures 2
Definition A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11.
https://pubmed.ncbi.nlm.nih.gov/18479385/
Xrefs

MIM:605751

Synonyms

Benign Familial Infantile Seizures, 2 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a benign familial infantile epilepsy

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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