Auteurs
Cloarec R - Bruneau N - Rudolf G - Massacrier A - Salmi M - Bataillard M - Boulay C - Caraballo R - Fejerman N - Genton P - Hirsch E - Hunter A - Lesca G - Motte J - Roubertie A - Sanlaville D - Wong SW - Fu YH - Rochette J - Ptácek LJ - Szepetowski P
Journal
Neurology
Abstract
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.