Article
The phenotypic spectrum of SCN8A encephalopathy.
Neurology - 3 Feb 2015
Larsen Jan, Carvill Gemma L, Gardella Elena, Kluger Gerhard, Schmiedel Gudrun, Barisic Nina, Depienne Christel, Brilstra Eva, Mang Yuan, Nielsen Jens Erik Klint, Kirkpatrick Martin, Goudie David, Goldman Rebecca, Jähn Johanna A, Jepsen Birgit, Gill Deepak, Döcker Miriam, Biskup Saskia, McMahon Jacinta M, Koeleman Bobby, Harris Mandy, Braun Kees, de Kovel Carolien G F, Marini Carla, Specchio Nicola, Djémié Tania, Weckhuysen Sarah, Tommerup Niels, Troncoso Monica, Troncoso Ledia, Bevot Andrea, Wolff Markus, Hjalgrim Helle, Guerrini Renzo, Scheffer Ingrid E, Mefford Heather C, Møller Rikke S
Abstract excerpt
OBJECTIVE: SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS: We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertained cases with SCN8A...
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