Unusual variability of PRRT2 linked phenotypes within a family


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

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, ss.540-542, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 18 Konu: 4
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1016/j.ejpn.2014.03.012
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.540-542

Özet

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).