PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

ABSTRACT:

Objective

Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations.

Methods

Forty-four probands with infantile-onset seizures, infantile convulsions with mild gastroenteritis, and benign neonatal seizures underwent detailed phenotyping and PRRT2 seque

SUBMITTER: Scheffer IE 

PROVIDER: S-EPMC3511925 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature