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Unusual variability of PRRT2 linked phenotypes within a family

Frieder Brueckner1, Bernhard Kohl1, Burkhard Puest1

  • 1Katholisches Kinderkrankenhaus Wilhelmstift, Hamburg, Germany.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|April 24, 2014
PubMed
Abstract

Keywords:
Asymptomatic mutation carrierBenign infantile familial convulsionsMutationPRRT2Paroxysmal kinesigenic dyskinesiasPhenotype

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