GLRB is the third major gene of effect in hyperekplexia-Reference-Cited by-同舟云学术

GLRB is the third major gene of effect in hyperekplexia

Published:2012-11-25 Issue:5 Volume:22 Page:927-940
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Chung Seo-Kyung,Bode Anna,Cushion Thomas D.,Thomas Rhys H.,Hunt Charlotte,Wood Sian-Elin,Pickrell William O.,Drew Cheney J.G.,Yamashita Sumimasa,Shiang Rita,Leiz Steffen,Longhardt Ann-Carolyn,Raile Vera,Weschke Bernhard,Puri Ratna D.,Verma Ishwar C.,Harvey Robert J.,Ratnasinghe Didi D.,Parker Michael,Rittey Chris,Masri Amira,Lingappa Lokesh,Howell Owain W.,Vanbellinghen Jean-François,Mullins Jonathan G.,Lynch Joseph W.,Rees Mark I.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/22/5/927/14140709/dds498.pdf

Reference48 articles.

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2. Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease;Rees;Nat. Genet.,2006

3. The genetics of hyperekplexia: more than startle!;Harvey;Trends Genet.,2008

4. Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia;Chung;J. Neurosci.,2010

5. Identifying and prioritising epilepsy treatment uncertainties;Thomas;J. Neurol. Neurosurg. Psychiatry,2010

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