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
(Oxford University Press, 2021-12-01)
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 ...