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.
Original language | English |
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Pages (from-to) | 386-391 |
Number of pages | 6 |
Journal | Annals of Clinical and Translational Neurology |
Volume | 6 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 1 2019 |
ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Neurology