Article
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
American journal of human genetics - 5 Jun 2014
Perrault Isabelle, Hamdan Fadi F, Rio Marlène, Capo-Chichi José-Mario, Boddaert Nathalie, Décarie Jean-Claude, Maranda Bruno, Nabbout Rima, Sylvain Michel, Lortie Anne, Roux Philippe P, Rossignol Elsa, Gérard Xavier, Barcia Giulia, Berquin Patrick, Munnich Arnold, Rouleau Guy A, Kaplan Josseline, Rozet Jean-Michel, Michaud Jacques L
Abstract excerpt
Epileptic encephalopathies are increasingly thought to be of genetic origin, although the exact etiology remains uncertain in many cases. We describe here three girls from two nonconsanguineous families affected by a clinical entity characterized by dysmorphic features, early-onset intractable epilepsy, intellectual disability, and cortical blindness. In individuals from each family, brain imaging also showed...
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