NDLI: Identification of CACNA1A large deletions in four patients with episodic ataxia

Content Provider	Springer Nature Link
Author	Riant, Florence Lescoat, Christelle Vahedi, Katayoun Kaphan, Elsa Toutain, Annick Soisson, Thierry Wiener Vacher, Sylvette R. Tournier Lasserve, Elisabeth
Copyright Year	2009
Abstract	Episodic ataxia is an autosomal dominant ion channel disorder characterized by paroxysmal attacks of incoordination. Episodic ataxia type 2 (EA2) is caused by mutations in CACNA1A. EA2 mutations are mostly nonsense and sometimes missense mutations. However, in some typical EA2 families, CACNA1A sequencing does not detect any point mutation. Herein, we have designed a quantitative multiplex polymerase chain reaction of short fluorescent fragment test to screen the 50 exons of CACNA1A and investigated 27 probands referred for molecular diagnosis of EA2 who did not show any point mutation in CACNA1A. We have identified four different exonic deletions in four patients with a typical EA2 phenotype. These results establish the need to complete sequencing analysis by a screening for deletions to ensure an accurate molecular diagnosis of EA2.
Starting Page	101
Ending Page	106
Page Count	6
File Format	PDF
ISSN	13646745
Journal	Neurogenetics
Volume Number	11
Issue Number	1
e-ISSN	13646753
Language	English
Publisher	Springer-Verlag
Publisher Date	2009-07-25
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	CACNA1A Episodic ataxia EA2 Deletion Neurosciences Molecular Medicine Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cellular and Molecular Neuroscience Genetics (clinical)

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