Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Brain : a journal of neurology - 1 Sept 2017
Masnada Silvia, Hedrich Ulrike B S, Gardella Elena, Schubert Julian, Kaiwar Charu, Klee Eric W, Lanpher Brendan C, Gavrilova Ralitza H, Synofzik Matthis, Bast Thomas, Gorman Kathleen, King Mary D, Allen Nicholas M, Conroy Judith, Ben Zeev Bruria, Tzadok Michal, Korff Christian, Dubois Fanny, Ramsey Keri, Narayanan Vinodh, Serratosa Jose M, Giraldez Beatriz G, Helbig Ingo, Marsh Eric, O'Brien Margaret, Bergqvist Christina A, Binelli Adrian, Porter Brenda, Zaeyen Eduardo, Horovitz Dafne D, Wolff Markus, Marjanovic Dragan, Caglayan Hande S, Arslan Mutluay, Pena Sergio D J, Sisodiya Sanjay M, Balestrini Simona, Syrbe Steffen, Veggiotti Pierangelo, Lemke Johannes R, Møller Rikke S, Lerche Holger, Rubboli Guido
Abstract excerpt
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail...
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