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Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

Mutations in the sodium‐activated potassium channel gene KCNT1 have been associated with nonlesional sleep‐related hypermotor epilepsy (SHE). We report the co‐occurrence of mild malformation of cortical development (mMCD) and KCNT1 mutations in four patients with SHE. Focal cortical dysplasia type I...

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Detalles Bibliográficos
Autores principales: Rubboli, Guido, Plazzi, Giuseppe, Picard, Fabienne, Nobili, Lino, Hirsch, Edouard, Chelly, Jamel, Prayson, Richard A., Boutonnat, Jean, Bramerio, Manuela, Kahane, Philippe, Dibbens, Leanne M., Gardella, Elena, Baulac, Stéphanie, Møller, Rikke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389734/
https://www.ncbi.nlm.nih.gov/pubmed/30847371
http://dx.doi.org/10.1002/acn3.708