Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms-Reference-Cited by-同舟云学术

Late onset Lafora disease and novel EPM2A mutations: Breaking paradigms

Published:2014-11 Issue:9 Volume:108 Page:1501-1510
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Jara-Prado Aurelio,Ochoa Adriana,Alonso María Elisa,Villeda Gabriel A. Lima,Fernández-Valverde Francisca,Ruano-Calderón Luis,Vargas-Cañas Steven,Durón Reyna M.,Delgado-Escueta Antonio V.,Martínez-Juárez Iris E.

Funder

CONACYT FONSEC

NIH

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit;Annesi;Epilepsia,2004

2. Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation;Baykan;Epilepsia,2005

3. Mutations in NHLRC1 cause progressive myoclonus epilepsy;Chan;Nat. Genet.,2003

4. Advances in Lafora progressive myoclonus epilepsy;Delgado-Escueta;Curr. Neurol. Neurosci.,2007

5. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation;Fernández-Sánchez;Hum. Mol. Genet.,2003

Cited by 20 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Lafora Disease: A Case Report and Evolving Treatment Advancements;Brain Sciences;2023-12-06

2. MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease;Molecular Genetics & Genomic Medicine;2023-07-17

3. Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan;Pakistan Journal of Zoology;2022

4. A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments;Child Neurology Open;2022-01

5. An empirical pipeline for personalized diagnosis of Lafora disease mutations;iScience;2021-11