Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.S309T
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KCNA1

NM_000217.3:p.S309T

Associated Papers

Involvement of the Peripheral Nervous System in Episodic Ataxias.

Koźmiński W et al.

Biomedicines, 2020

Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.

D'Adamo MC et al.

International Journal of Molecular Sciences, 2020

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.

Paulhus K et al.

International Journal of Molecular Sciences, 2020

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia.

Verdura E et al.

Journal of Medical Genetics, 2020

Advances on genetic rat models of epilepsy.

Serikawa T et al.

Experimental Animals, 2015

New insights into the pathogenesis and therapeutics of episodic ataxia type 1.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2015

K(+) channelepsy: progress in the neurobiology of potassium channels and epilepsy.

D'Adamo MC et al.

Frontiers in Cellular Neuroscience, 2013

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.

Ishida S et al.

Brain Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."