Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations
2 UCPH - University of Copenhagen = Københavns Universitet
3 UNIBO - Alma Mater Studiorum Università di Bologna = University of Bologna
4 CNR - Institute of Neurological Sciences
5 Geneva University Hospitals and Geneva University
6 Niguarda Hospital [Milan, Italy]
7 Hôpital de Hautepierre [Strasbourg]
8 CBI - Centre for Integrative Biology
9 Nouvel Hôpital Civil de Strasbourg
10 HUS - Hôpitaux Universitaires de Strasbourg
11 Cleveland Clinic
12 IBP - Institut de Biologie et de Pathologie [CHU Grenoble]
13 UGA [2016-2019] - Université Grenoble Alpes [2016-2019]
14 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
15 University of South Australia [Adelaide]
16 SDU - University of Southern Denmark = Syddansk Universitet
17 ICM - Institut du Cerveau = Paris Brain Institute
- Fonction : Auteur
- PersonId : 1135061
- ORCID : 0000-0003-0833-8850
- IdRef : 076984621
- Fonction : Auteur
- PersonId : 1153387
- ORCID : 0000-0002-0939-8719
- IdRef : 068664346
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.