Unusual variability of PRRT2 linked phenotypes within a family

Brueckner F., Kohl B., Puest B., Gassner S., Osseforth J., Lindenau M., ...More

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.4, pp.540-542, 2014 (SCI-Expanded) identifier identifier identifier


Background: Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene on chromosome 16p11.2 have recently been identified as a cause of paroxysmal kinesigenic dyskinesias (PKD), infantile convulsions and choreoathetosis (ICCA) syndrome or infantile convulsions (IC).