Article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Brain : a journal of neurology - 31 Dec 2021
Bonardi Claudia M, Heyne Henrike O, Fiannacca Martina, Fitzgerald Mark P, Gardella Elena, Gunning Boudewijn, Olofsson Kern, Lesca Gaétan, Verbeek Nienke, Stamberger Hannah, Striano Pasquale, Zara Federico, Mancardi Maria M, Nava Caroline, Syrbe Steffen, Buono Salvatore, Baulac Stephanie, Coppola Antonietta, Weckhuysen Sarah, Schoonjans An-Sofie, Ceulemans Berten, Sarret Catherine, Baumgartner Tobias, Muhle Hiltrud, Portes Vincent des, Toulouse Joseph, Nougues Marie-Christine, Rossi Massimiliano, Demarquay Geneviève, Ville Dorothée, Hirsch Edouard, Maurey Hélène, Willems Marjolaine, de Bellescize Julitta, Altuzarra Cecilia Desmettre, Villeneuve Nathalie, Bartolomei Fabrice, Picard Fabienne, Hornemann Frauke, Koolen David A, Kroes Hester Y, Reale Chiara, Fenger Christina D, Tan Wen-Hann, Dibbens Leanne, Bearden David R, Møller Rikke S, Rubboli Guido
Abstract excerpt
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a...
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