Metadata | |
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ID | DOID:0081118 |
Name | benign familial infantile seizures 5 |
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 SCN8A gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/23086396/ |
Xrefs | |
Synonyms |
Benign Familial Infantile Seizures, 5 [EXACT] |
Parent Relationships |