Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations
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Date
2019
Authors
Rubboli, G.
Plazzi, G.
Picard, F.
Nobili, L.
Hirsch, E.
Chelly, J.
Prayson, R.A.
Boutonnat, J.
Bramerio, M.
Kahane, P.
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Annals of Clinical and Translational Neurology, 2019; 6(2):386-391
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Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. 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.
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Copyright © 2018 The Authors. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. (https://creativecommons.org/licenses/by-nc-nd/4.0/)