‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation-Reference-Cited by-同舟云学术

‘North Sea’ progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Published:2013-02-28 Issue:4 Volume:136 Page:1146-1154
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Boissé Lomax Lysa,Bayly Marta A.,Hjalgrim Helle,Møller Rikke S.,Vlaar Annemarie M.,Aaberg Kari M.,Marquardt Iris,Gandolfo Luke C.,Willemsen Michèl,Kamsteeg Erik-Jan,O’Sullivan John D.,Korenke G. Christoph,Bloem Bastiaan R.,de Coo Irenaeus F.,Verhagen Judith M. A.,Said Ines,Prescott Trine,Stray-Pedersen Asbjørg,Rasmussen Magnhild,Vears Danya F.,Lehesjoki Anna-Elina,Corbett Mark A.,Bahlo Melanie,Gecz Jozef,Dibbens Leanne M.,Berkovic Samuel F.

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Link

http://academic.oup.com/brain/article-pdf/136/4/1146/13795858/awt021.pdf

Reference26 articles.

1. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome;Bassuk;Am J Hum Genet,2008

2. Progressive myoclonus epilepsies: specific causes and diagnosis;Berkovic;N Engl J Med,1986

3. Progressive myoclonus epilepsies: clinical and genetic aspects;Berkovic;Epilepsia,1993

4. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am J Hum Genet,2008

5. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping;Berkovic;Brain,2005

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