Article
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.
Neurology - 10 Jun 2014
Picard Fabienne, Makrythanasis Periklis, Navarro Vincent, Ishida Saeko, de Bellescize Julitta, Ville Dorothée, Weckhuysen Sarah, Fosselle Erwin, Suls Arvid, De Jonghe Peter, Vasselon Raina Maryline, Lesca Gaetan, Depienne Christel, An-Gourfinkel Isabelle, Vlaicu Mihaela, Baulac Michel, Mundwiller Emeline, Couarch Philippe, Combi Romina, Ferini-Strambi Luigi, Gambardella Antonio, Antonarakis Stylianos E, Leguern Eric, Steinlein Ortrud, Baulac Stéphanie
Abstract excerpt
OBJECTIVE: To study the prevalence of DEPDC5 mutations in a series of 30 small European families with a phenotype compatible with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). METHODS: Thirty unrelated families referred with ADNFLE were recruited in France, Italy, Germany, Belgium, and Norway. Whole-exome sequencing was performed in 10 probands and direct sequencing of the DEPDC5 coding sequence in...
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