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

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Rubboli, Guido
Plazzi, Giuseppe
Nobili, Lino
Hirsch, Edouard
Chelly, Jamel
Prayson, Richard A.
Boutonnat, Jean
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Published in Annals of Clinical and Translational Neurology. 2019
Abstract 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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RUBBOLI, Guido et al. Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. In: Annals of Clinical and Translational Neurology, 2019. https://archive-ouverte.unige.ch/unige:112574

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Deposited on : 2019-01-07

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