Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness

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 epile...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2014
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4121477/
https://ncbi.nlm.nih.gov/pubmed/24814191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.04.012
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