Unusual variability of PRRT2 linked phenotypes within a family

Tarih
2014
Yazar
Lindenau, Matthias
Lohmann, Ebba
Osseforth, Judith
Stodieck, Stefan
Biskup, Saskia
Brueckner, Frieder
Kohl, Bernhard
Puest, Burkhard
Gassner, Silke
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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).
Bağlantı
http://hdl.handle.net/20.500.12627/30244
https://doi.org/10.1016/j.ejpn.2014.03.012
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