Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation-Reference-Cited by-同舟云学术

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

Published:2007-05 Issue:5 Volume:48 Page:1011-1014
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Gomez-Abad Cristina,Afawi Zaid,Korczyn Amos D.,Misk Adel,Shalev Stavit A.,Spiegel Ronen,Lerman-Sagie Tally,Lev Dorit,Kron Katherine L.,Gómez-Garre Pilar,Serratosa Jose M.,Berkovic Samuel F.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2007.01004.x/fullpdf

Reference12 articles.

1. Late-onset and Slow-progressing Lafora Disease in Four Siblings with EPM2B Mutation

2. Mutations in NHLRC1 cause progressive myoclonus epilepsy

3. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

4. Lafora disease due to EPM2B mutations: A clinical and genetic study

5. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

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