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Metadata
ID DOID:0081116
Name benign familial infantile seizures 3
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 mutations in the SCN2A gene on chromosome 2q24.
https://pubmed.ncbi.nlm.nih.gov/11094099/
Xrefs

MIM:607745

Synonyms

Benign Familial Infantile Seizures, 3 [EXACT]

benign familial neonatal-infantile seizures [EXACT]

Parent Relationships

is_a benign familial infantile epilepsy

is_a autosomal dominant disease

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