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Article Dans Une Revue Annals of Clinical Translational Neurology Année : 2018

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

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.

Domaines

Génétique

Dates et versions

hal-03698383 , version 1 (17-06-2022)

Identifiants

Citer

G Rubboli, G Plazzi, F Picard, L Nobili, Edouard Hirsch, et al.. Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations. Annals of Clinical Translational Neurology, 2018, 6 (2), pp.386-391. ⟨10.1002/acn3.708⟩. ⟨hal-03698383⟩
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