PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

ABSTRACT:

Objective

Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported. In order to explore the mutational and clinical spectra, we analyzed 34 additional families with either typical PKD/IC or PKD/IC with migraine.

Methods

We performed Sanger sequencing of all PRRT2 coding exons and of exon-intron boundaries in the probands and in their relatives whenever appropriate.

Results

Two known and 2 novel PRRT2 mutations were

SUBMITTER: Cloarec R 

PROVIDER: S-EPMC3511924 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature