A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes
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- 作者：Hideki Kato ; M.D. ; Ph.D.a ; 1 ; Yosuke Kokunai ; M.D. ; Ph.D.b ; c ; 1 ; Carine Dalle ; Ph.Dc ; Tomoya Kubota ; M.D. ; Ph.D.b ; d ; e ; Yuta Madokoro ; M.D.a ; Hiroyuki Yuasa ; M.D. ; Ph.D.a ; Yuto Uchida ; M.D.a ; Tomomasa Ikeda ; M.D.a ; Hideki Mochizuki ; M.D. ; Ph.D.b ; Sophie Nicole ; Ph.D.c ; Bertrand Fontaine ; M.D. ; Ph.D.c ; Masanori P. Takahashi ; M.D. ; Ph.D.b ; e ; mtakahas@neurol.med.osaka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author ; Shigehisa Mitake ; M.D. ; Ph.D.a
- 关键词：Non-dystrophic myotonia ; Paralysis ; Channelopathy ; Sodium channel ; Chloride channel
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 October 2016
- 年：2016
- 卷：369
- 期：Complete
- 页码：254-258
- 全文大小：788 K
文摘
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A case of non-dystrophic myotonia with mutations in CLCN1 and SCN4A is presented.
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The proband's mother, who showed myotonia, had an E950K mutation in CLCN1.
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The proband showed atypical paralytic attacks of long duration.
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Functional analysis of the mutant sodium channel revealed enhanced activation.
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Additive effects of CLCN1 and SCN4A mutations may cause the atypical phenotype.