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Article

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

International journal of molecular sciences - 1 Dec 2022

Rychkov Grigori Y, Shaukat Zeeshan, Lim Chiao Xin, Hussain Rashid, Roberts Ben J, Bonardi Claudia M, Rubboli Guido, Meaney Brandon F, Whitney Robyn, Møller Rikke S, Ricos Michael G, Dibbens Leanne M

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36499459
DOI: 10.3390/ijms232315133
PMCID: PMC9740882

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