Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations
G Rubboli
(1, 2)
,
G Plazzi
(3, 4)
,
F Picard
(5)
,
L Nobili
(6)
,
Edouard Hirsch
(7, 8)
,
Jameleddine Chelly
(9, 10)
,
R Prayson
(11)
,
J Boutonnat
(12)
,
M Bramerio
(6)
,
P Kahane
(13, 14)
,
L Dibbens
(15)
,
E Gardella
(1, 16)
,
S Baulac
(17)
,
R Moller
(1, 16)
1
The Danish Epilepsy Centre Filadelfia [Dianalund, Denmark]
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 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI
9 Nouvel Hôpital Civil de Strasbourg
10 HUS - Les 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
17 ICM - Institut du Cerveau = Paris Brain Institute
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 Inserm U964 - CNRS UMR7104 - IGBMC - Centre for Integrative Biology - CBI
9 Nouvel Hôpital Civil de Strasbourg
10 HUS - Les 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
17 ICM - Institut du Cerveau = Paris Brain Institute
Edouard Hirsch
- Fonction : Auteur
- PersonId : 1135061
Jameleddine Chelly
- Fonction : Auteur
- PersonId : 1054990
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.