Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations-Reference-Cited by-同舟云学术

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations

Published:2015-09-22 Issue:1 Volume:17 Page:11-16
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Brownstein Catherine A.,Beggs Alan H.,Rodan Lance,Shi Jiahai,Towne Meghan C.,Pelletier Renee,Cao Siqi,Rosenberg Paul A.,Urion David K.,Picker Jonathan,Tan Wen-Hann,Agrawal Pankaj B.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-015-0460-2.pdf

Reference16 articles.

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2. Graves TD, Cha YH, Hahn AF et al (2014) Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain J Neurol 137(Pt 4):1009–1018

3. Graves TD, Rajakulendran S, Zuberi SM et al (2010) Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins. Neurology 75(4):367–372

4. Tan SV, Wraige E, Lascelles K, Bostock H (2013) Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations. Dev Med Child Neurol 55(10):959–962

5. Browne DL, Gancher ST, Nutt JG et al (1994) Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 8(2):136–140

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