Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations.
Guido RubboliGiuseppe PlazziFabienne PicardLino NobiliEdouard HirschJamel ChellyRichard A PraysonJean BoutonnatManuela BramerioPhilippe KahaneLeanne M DibbensElena GardellaStephanie BaulacRikke S MøllerPublished in: Annals of clinical and translational neurology (2018)
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.
Keyphrases
- magnetic resonance imaging
- end stage renal disease
- contrast enhanced
- copy number
- physical activity
- ejection fraction
- minimally invasive
- prognostic factors
- gene expression
- peritoneal dialysis
- magnetic resonance
- diffusion weighted imaging
- patient reported outcomes
- temporal lobe epilepsy
- percutaneous coronary intervention