Unusual variability of PRRT2 linked phenotypes within a family
Date
2014Author
Lindenau, Matthias
Lohmann, Ebba
Osseforth, Judith
Stodieck, Stefan
Biskup, Saskia
Brueckner, Frieder
Kohl, Bernhard
Puest, Burkhard
Gassner, Silke
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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).
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- Makale [92796]