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

Publié dansAnnals of Clinical and Translational Neurology, vol. 6, no. 2, p. 386-391
Date de publication2019
Résumé

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.

Citation (format ISO)
RUBBOLI, Guido et al. Mild malformations of cortical development in sleep-related hypermotor epilepsy due to <i>KCNT1</i> mutations. In: Annals of Clinical and Translational Neurology, 2019, vol. 6, n° 2, p. 386–391. doi: 10.1002/acn3.708
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ISSN du journal2328-9503
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Informations techniques

Création07/01/2019 14:51:00
Première validation07/01/2019 14:51:00
Heure de mise à jour15/03/2023 15:20:03
Changement de statut15/03/2023 15:20:01
Dernière indexation12/02/2024 12:58:23
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