Article
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Journal of medical genetics - 1 Feb 2010
Heron Sarah E, Scheffer Ingrid E, Iona Xenia, Zuberi Sameer M, Birch Rachael, McMahon Jacinta M, Bruce Carla M, Berkovic Samuel F, Mulley John C
Abstract excerpt
BACKGROUND: Dravet syndrome is a severe infantile epileptic encephalopathy caused in approximately 80% of cases by mutations in the voltage gated sodium channel subunit gene SCN1A. The majority of these mutations are de novo. The parental origin of de novo mutations varies widely among genetic disorders and the aim of this study was to determine this for Dravet syndrome. METHODS: 91 patients with de novo SCN1A...
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