Episodic ataxia and myokymia syndrome: A new mutation of potassium channel gene Kv1.1
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference12 articles.
1. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA-1;Browne;Nature Genet,1994
2. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families;Browne;Hum Mol Genet,1995
3. Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries;Wood;Proc Natl Acad Sci USA,1985
4. Hereditary myokymia and periodic ataxia;Van Dyke;J Neurol Sci,1975
5. Familial paroxysmal kinesigenic ataxia and continuous myokymia;Brunt;Brain,1990
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1. Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy;International Journal of Molecular Sciences;2023-05-16
2. Case report: A novel loss-of-function pathogenic variant in the KCNA1 cytoplasmic N-terminus causing carbamazepine-responsive type 1 episodic ataxia;Frontiers in Neurology;2022-08-09
3. Paroxysmal dyskinesias;Principles and Practice of Movement Disorders;2021
4. A novel giant non-cholinergic striatal interneuron restricted to the ventrolateral striatum coexpresses Kv3.3 potassium channel, parvalbumin, and the vesicular GABA transporter;Molecular Psychiatry;2020-11-14
5. A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel;International Journal of Molecular Sciences;2020-10-14
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