Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Neurology,General Medicine
Reference4 articles.
1. Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes;Singh;Hum Mutat,2009
2. Progressive myoclonus epilepsy with polyglucosans (Lafora disease): Evidence for a third locus;Chan;Neurology,2004
3. Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools;Castellana;Brief Bioinform,2013
4. Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease;Raththagala;Mol Cell,2015
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1. Detection of Two Missense Substitutions in Gene EPM2B in Patients of Myoclonic Epilepsy from Balochistan;Pakistan Journal of Zoology;2022
2. An empirical pipeline for personalized diagnosis of Lafora disease mutations;iScience;2021-11
3. Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis;Orphanet Journal of Rare Diseases;2021-08-16
4. An empirical pipeline for personalized diagnosis of Lafora disease mutations;2021-03-26
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