Journal article
Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity
Abstract
KCNT1 (K+ channel subfamily T member 1) is a sodium-activated potassium channel highly expressed in the nervous system which regulates neuronal excitability by contributing to the resting membrane potential and hyperpolarisation following a train of action potentials. Gain of function mutations in the KCNT1 gene are the cause of neurological disorders associated with different forms of epilepsy. To gain insights into the underlying pathobiology …
Authors
Rychkov GY; Shaukat Z; Lim CX; Hussain R; Roberts BJ; Bonardi CM; Rubboli G; Meaney BF; Whitney R; Møller RS
Journal
International Journal of Molecular Sciences, Vol. 23, No. 23,
Publisher
MDPI
DOI
10.3390/ijms232315133
ISSN
1661-6596