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

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.

• Authors: Guido Rubboli, Giuseppe Plazzi, Fabienne Picard, Lino Nobili, Edouard Hirsch, Jamel Chelly, Richard A Prayson, Jean Boutonnat, Manuela Bramerio, Philippe Kahane, Leanne M Dibbens, Elena Gardella, Stéphanie Baulac, Rikke S Møller
• Journal: Annals of clinical and translational neurology (Ann Clin Transl Neurol) Vol. 6 Issue 2 Pg. 386-391 (02 2019) ISSN: 2328-9503 [Print] United States
• PMID: 30847371 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• KCNT1 protein, human
• Nerve Tissue Proteins
• Potassium Channels, Sodium-Activated

Topics

• Epilepsy, Reflex (genetics)
• Humans
• Malformations of Cortical Development (genetics)
• Mutation (genetics)
• Nerve Tissue Proteins (genetics)
• Neurogenesis (genetics)
• Periventricular Nodular Heterotopia (genetics)
• Potassium Channels, Sodium-Activated (genetics)