PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

ABSTRACT:

Objective

To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms.

Methods

We carried out a clinical and genealogic study of a 3-generation family and of 32 additional probands with BFIS (11 families), infantile convulsions and paroxysmal choreoathetosis (ICCA) (9 families), BFIS/generalized epilepsy with febrile seizures plus (5 families), and sporadic benign neonatal or infantile seizures (7 probands/families). We performed a genetic study consisting of linkage analysis and PRRT2 screening of the 33 probands/f

SUBMITTER: Marini C 

PROVIDER: S-EPMC3511926 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature