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Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A.

作者信息

Balck Alexander, Hanssen Henrike, Hellenbroich Yorck, Lohmann Katja, Münchau Alexander

机构信息

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Department of Neurology, University Hospital Schleswig-Holstein, Lübeck, Germany.

出版信息

J Neurol. 2017 Jul;264(7):1520-1522. doi: 10.1007/s00415-017-8494-z. Epub 2017 Apr 28.

DOI:10.1007/s00415-017-8494-z
PMID:28455667
Abstract
摘要

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Episodic ataxia and SCA6 within the same family due to the D302N CACNA1A gene mutation.由于D302N CACNA1A基因突变，同一家庭中出现发作性共济失调和脊髓小脑共济失调6型。
J Neurol Sci. 2016 Dec 15;371:81-84. doi: 10.1016/j.jns.2016.10.029. Epub 2016 Oct 19.
2
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.SLC1A2和CACNA1A基因的新发突变是癫痫性脑病的重要病因。
Am J Hum Genet. 2016 Aug 4;99(2):287-98. doi: 10.1016/j.ajhg.2016.06.003. Epub 2016 Jul 28.
3
A general framework for estimating the relative pathogenicity of human genetic variants.
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Orphanet J Rare Dis. 2021 Nov 2;16(1):461. doi: 10.1186/s13023-021-02101-y.
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Calcium channelopathies and intellectual disability: a systematic review.钙通道病与智力障碍：系统综述。
Orphanet J Rare Dis. 2021 May 13;16(1):219. doi: 10.1186/s13023-021-01850-0.
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Front Neurol. 2021 Mar 2;12:639994. doi: 10.3389/fneur.2021.639994. eCollection 2021.
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