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

Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S Møller

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Abstrakt

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 was neuropathologically diagnosed after epilepsy surgery in three unrelated MRI-negative patients, periventricular nodular heterotopia was detected in one patient by MRI. Our findings suggest that KCNT1 epileptogenicity may result not only from dysregulated excitability by controlling Na+K+ transport, but also from mMCD. Therefore, pathogenic variants in KCNT1 may encompass both lesional and nonlesional epilepsies.

OriginalsprogEngelsk
Sider (fra-til)386-391
Antal sider6
TidsskriftAnnals of Clinical and Translational Neurology
Vol/bind6
Udgave nummer2
DOI
StatusUdgivet - feb. 2019

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