Condition: Lafora Disease


rs104893950 in EPM2A gene and Lafora Disease PMID 12019207 2002 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PMID 11175283 2000 In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients.

PMID 9931343 1999 A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

PMID 14706656 2004 The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

PMID 11739371 2002 A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.

PMID 15009235 2004 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

PMID 26231210 2015 Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates.

PMID 25544560 2015 Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 11001928 2000 Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

PMID 12560877 2003 Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.

PMID 14532330 2003 Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

PMID 11175283 2000 Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

rs104893955 in EPM2A;LOC100507557 gene and Lafora Disease PMID 14706656 2004 The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 11175283 2000 Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

PMID 11001928 2000 Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

PMID 14532330 2003 Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

PMID 12560877 2003 Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.

PMID 25544560 2015 Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

PMID 9931343 1999 A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 12019207 2002 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PMID 26231210 2015 Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates.

PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

PMID 11739371 2002 A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.

PMID 15009235 2004 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

rs1034706422 in LOC100507557;EPM2A gene and Lafora Disease PMID 11175283 2000 Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

PMID 11739371 2002 A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.

PMID 9931343 1999 A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

PMID 26231210 2015 Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates.

PMID 11001928 2000 Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

PMID 12019207 2002 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

PMID 14532330 2003 Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.

PMID 9771710 1998 Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

PMID 12560877 2003 Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy.

PMID 14706656 2004 The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 14722920 2004 Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

PMID 15009235 2004 A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit.

PMID 25544560 2015 Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.

rs121917876 in NHLRC1 gene and Lafora Disease PMID 21505799 2011 Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

PMID 18311786 2008 Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

PMID 16021330 2005 Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

PMID 12958597 2003 Mutations in NHLRC1 cause progressive myoclonus epilepsy.

PMID 15781812 2005 Lafora disease due to EPM2B mutations: a clinical and genetic study.

PMID 15930137 2005 Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

PMID 16950819 2006 Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy.

PMID 12960212 2003 Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.

PMID 18256682 2008 Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).

PMID 18029386 2008 Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.

PMID 16529633 2006 Clinical and genetic findings in 26 Italian patients with Lafora disease.

PMID 16311711 2006 Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

PMID 19744044 2009 Genetic testing revealed a homozygous missense mutation (c.205C > G, P69A) in the EPM2B (NHLRC1) gene, confirming the diagnosis of progressive myoclonic epilepsy Lafora-type.

PMID 22815132 2012 Deciphering the role of malin in the lafora progressive myoclonus epilepsy.

PMID 20738377 2010 Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

PMID 18263761 2008 Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.

PMID 16134145 2005 Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

PMID 25667860 2014 Clinical onset was at the age of 19 years with tonic-clonic seizures, followed by cognitive impairment; EEG was in favor of Lafora disease, and the mutation c.436G>A (a missense mutation substituting aspartic acid in asparagine) in the NHLRC1 gene confirmed this diagnosis.

PMID 17952067 2007 Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

PMID 16190947 2005 Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation.

PMID 22047982 2012 Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.