The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference24 articles.
1. Na(+)-activated K(+) channels in rat supraoptic neurones;Bansal;J Endocrinol,2016
2. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy;Barcia;Nat Genet,2012
3. The n channel Slack is required for optimal cognitive flexibility in mice;Bausch;Learn Mem,2015
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1. Potassium channel‐related epilepsy: Pathogenesis and clinical features;Epilepsia Open;2024-04
2. Transcriptional changes in the rat brain induced by repetitive transcranial magnetic stimulation;Frontiers in Human Neuroscience;2023-11-13
3. Slack K+ channels limit kainic acid-induced seizure severity in mice by modulating neuronal excitability and firing;Communications Biology;2023-10-11
4. Functional evaluation of epilepsy‐associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties;Epilepsia;2023-06-09
5. KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties;Annals of Neurology;2023-05-22
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