Metadata | |
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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 | |
Synonyms |
Benign Familial Infantile Seizures, 2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |