Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease-Reference-Cited by-同舟云学术

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

Published:2006-03 Issue:3 Volume:47 Page:640-643
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Franceschetti Silvana,Gambardella Antonio,Canafoglia Laura,Striano Pasquale,Lohi Hannes,Gennaro Elena,Ianzano Leonarda,Veggiotti Pierangelo,Sofia Vito,Biondi Roberto,Striano Salvatore,Gellera Cinzia,Annesi Grazia,Madia Francesca,Civitelli Donata,Rocca Francesca E.,Quattrone Aldo,Avanzini Giuliano,Minassian Berge,Zara Federico

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1528-1167.2006.00479.x/fullpdf

Reference11 articles.

1. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

2. A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

3. Mutations in NHLRC1 cause progressive myoclonus epilepsy

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

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