A novel mutation in KCNA1 causes episodic ataxia without myokymia

H Lee, H Wang, JC Jen, C Sabatti, RW Baloh… - Human …, 2004 - Wiley Online Library
We describe a unique family in which several individual are affected with episodes of ataxia
that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members …
被引用次数：61 相关文章

[引用][C] A novel mutation in KCNA1 causes episodic ataxia without myokymia

H Lee, H Wang, JC Jen, C Sabatti, RW Baloh… - Human Mutation, 2004 - cir.nii.ac.jp
A novel mutation in KCNA1 causes episodic ataxia without myokymia | CiNii Research CiNii
国立情報学研究所 学術情報ナビゲータ[サイニィ] 詳細へ移動 検索フォームへ移動 論文・データを …

A novel mutation in KCNA1 causes episodic ataxia without myokymia

H Lee, H Wang, JC Jen, C Sabatti… - Human …, 2004 - pubmed.ncbi.nlm.nih.gov
We describe a unique family in which several individual are affected with episodes of ataxia
that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members …

A novel mutation in KCNA1 causes episodic ataxia without myokymia

L Hane, H Wang, JC Jen, C Sabatti, RW Baloh… - Human …, 2004 - search.proquest.com
We describe a unique family in which several individual are affected with episodes of ataxia
that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members …

A Novel Mutation in KCNA1 Causes Episodic Ataxia Without Myokymia

HW Hane Lee, JC Jen, C Sabatti, RW Baloh… - 2004 - Wiley Online Library
KCNA1 that cause EA1. The mutation c. 1025G> T replaces a highly conserved serine with
isoleucine at position 342 (p. Ser342Ile) in the highly conserved fifth transmembrane domain …

A novel mutation in KCNA1 causes episodic ataxia without myokymia.

H Lee, H Wang, JC Jen, C Sabatti, RW Baloh… - Human …, 2004 - europepmc.org
We describe a unique family in which several individual are affected with episodes of ataxia
that best fit the phenotype of episodic ataxia type 2 (EA2). All of the affected family members …