Mutation of the nuclear lamin geneLMNB2in progressive myoclonus epilepsy with early ataxia-Reference-Cited by-同舟云学术

Mutation of the nuclear lamin geneLMNB2in progressive myoclonus epilepsy with early ataxia

Published:2015-05-07 Issue:16 Volume:24 Page:4483-4490
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum. Mol. Genet.

Author:

Damiano John A.,Afawi Zaid,Bahlo Melanie,Mauermann Monika,Misk Adel,Arsov Todor,Oliver Karen L.,Dahl Hans-Henrik M.,Shearer A. Eliot,Smith Richard J.H.,Hall Nathan E.,Mahmood Khalid,Leventer Richard J.,Scheffer Ingrid E.,Muona Mikko,Lehesjoki Anna-Elina,Korczyn Amos D.,Herrmann Harald,Berkovic Samuel F.,Hildebrand Michael S.

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/24/16/4483/2230029/ddv171.pdf

Reference35 articles.

1. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

2. Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

3. A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

4. Muona M. Berkovic S.F. Dibbens L.M. Oliver K.L. Maljevic S. Bayly M.A. Joensuu T. Canafoglia L. Franceschetti S. Michelucci R. (2015) A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat. Genet., 47, 39–46

5. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

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