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.
|Titolo:||Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations|
|Data di pubblicazione:||2019|
|Appare nelle tipologie:||01.01 - Articolo su rivista|
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|Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations 2019.pdf||Documento in versione editoriale||Open Access Visualizza/Apri|