Article
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.
Journal of medical genetics - 1 Jun 2010
Depienne Christel, Trouillard Oriane, Gourfinkel-An Isabelle, Saint-Martin Cécile, Bouteiller Delphine, Graber Denis, Barthez-Carpentier Marie-Anne, Gautier Agnès, Villeneuve Nathalie, Dravet Charlotte, Livet Marie-Odile, Rivier-Ringenbach Clothilde, Adam Claude, Dupont Sophie, Baulac Stéphanie, Héron Delphine, Nabbout Rima, Leguern Eric
Abstract excerpt
BACKGROUND Mutations in SCN1A can cause genetic epilepsy with febrile seizures plus (GEFS+, inherited missense mutations) or Dravet syndrome (DS, de novo mutations of all types). Although the mutational spectra are distinct, these disorders share major features and 10% of DS patients have an inherited SCN1A mutation. OBJECTIVES AND PATIENTS 19 selected families with at least one DS patient were studied to...
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