Genomes and Genes
Antonio V Delgado-Escueta
Affiliation: University of California
- Genetics of idiopathic myoclonic epilepsies: an overviewAntonio V Delgado-Escueta
University of California, Los Angeles, California, USA
Adv Neurol 89:161-84. 2002
- Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in miceSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
Hum Mol Genet 11:1251-62. 2002..Our results suggest that LD is a primary neurodegenerative disorder that may utilize a non-apoptotic mechanism of cell death...
- Recent developments in the quest for myoclonic epilepsy genesAntonio V Delgado-Escueta
Epilepsy Genetics Genomics Laboratory, Comprehensive Epilepsy Program, UCLA School of Medicine and VA GLAHS Epilepsy Center of Excellence, Los Angeles, California, U S A
Epilepsia 44:13-26. 2003....
- Advances in lafora progressive myoclonus epilepsyAntonio V Delgado-Escueta
Comprehensive Epilepsy Program, Epilepsy Genetics Genomics Laboratories, VA Greater Los Angeles Healthcare System, 11301 Wilshire Boulevard, West Los Angeles, CA 90073, USA
Curr Neurol Neurosci Rep 7:428-33. 2007..A curative therapy for human Lafora disease with laforin replacement therapy using neutral pegylated immunoliposomes is being investigated...
- The quest for juvenile myoclonic epilepsy genesAntonio V Delgado-Escueta
Epilepsy Genetics Genomics Laboratories, Neurology and Research Services, VA GLAHS West Los Angeles, CA, USA
Epilepsy Behav 28:S52-7. 2013..Five Mendelian JME genes have been identified, namely, CACNB4, CASR, GABRa1, GABRD, and Myoclonin1/EFHC1. Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to JME...
- [Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]A V Delgado-Escueta
Epilepsy Genetics Genomics Laboratories, West Los Angeles VA GLAHS Medical Center, Los Angeles, CA 90073, USA
Rev Neurol 35:82-6. 2002..At the congress, we will reveal the identity of the myoclonin gene, its putative function and discuss the significance of this discovery in the JME population at large...
- Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at allAntonio V Delgado-Escueta
Epilepsy Genetics Genomics Laboratories, VA Greater Los Angeles Healthcare System, David Geffen School of Medicine at UCLA, West Los Angeles, California 90073, USA
Epilepsia 49:13-24. 2008....
- Advances in the genetics of progressive myoclonus epilepsyA V Delgado-Escueta
Comprehensive Epilepsy Program, Epilepsy Genetics Genomics Laboratories, VA GLAHS West Los Angeles Medical Center, University of California, 90095 1769, USA
Am J Med Genet 106:129-38. 2001..31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances...
- DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsyDongsheng Bai
Epilepsy Genetics Genomics Lab, CEP, UCLA and VA GLAHS, Los Angeles, California 90073, USA
Epilepsia 50:1184-90. 2009..In this study, we asked if coding single nucleotide polymorphisms (SNPs) of EFHC1 also contribute as susceptibility alleles to JME with complex genetics...
- Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-upIris E Martinez-Juarez
David Geffen School of Medicine at UCLA and VA GLAHS Epilepsy Center of Excellence, Epilepsy Genetics Genomics Laboratories, Comprehensive Epilepsy Program, Los Angeles, CA 90073, USA
Brain 129:1269-80. 2006..Seven chromosome loci, three epilepsy-causing mutations and two genes with single nucleotide polymorphisms (SNPs) associating with JME reported in literature provide further evidence for JME as a distinct group of diseases...
- Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico familiesDongsheng Bai
Epilepsy Genetics Genomics Lab, Comprehensive Epilepsy Program UCLA, Los Angeles, California, USA
Am J Med Genet 113:268-74. 2002..5 cM flanked by D6S272 and D6S1573. These results provide confirmatory evidence that a major susceptibility gene for JME exists in chromosome 6p12 in Spanish-Amerinds of Mexico...
- Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient miceJesus Machado-Salas
Epilepsy Genetics Genomics Laboratories, Epilepsy Centre of Excellence, Neurology and Research Services, VA Greater Los Angeles Healthcare System, West Los Angeles Medical Center, Los Angeles, CA 90073, USA
Exp Neurol 236:131-40. 2012..Our findings are critical for future studies on disease mechanisms and therapies for LD. Interestingly, the neurodegenerative changes observed in this LD model can also be useful for understanding the process of dementia...
- EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causalityJulia N Bailey
Epilepsy Genetics Genomics Lab, Neurology and Research Services, VA GLAHS UCLA, Los Angeles, California, USA
Genet Med . 2016....
- Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1AMiyabi Tanaka
Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California 90095 1735, USA
Epilepsia 53:1450-6. 2012..Herein we determine if single nucleotide polymorphisms (SNPs) within the 1,148-bp region upstream from exon 1A influence the expression of GABRB3...
- Seizures of idiopathic generalized epilepsiesReyna M Duron
California Comprehensive Epilepsy Program, David Geffen School of Medicine at UCLA, Los Angeles, CA 90073, USA
Epilepsia 46:34-47. 2005..Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology...
- Treatment of myoclonic epilepsies in infancy and early childhoodRaman Sankar
Department of Neurology, David Geffen School of Medicine at UCLA and Mattel Children s Hospital at UCLA, Los Angeles, California, USA
Adv Neurol 95:289-98. 2005
- "Jasper's Basic Mechanisms of the Epilepsies" WorkshopJeffrey L Noebels
Department of Neurology, Baylor College of Medicine, Houston, Texas, U S A Montreal Neurological Institute, Montreal, Quebec, Canada Department of Neurology, University of California, Davis, California, U S A University of California, Los Angeles, California, U S A VA GLAHS West Los Angeles, California, U S A
Epilepsia 51:1-5. 2010..ncbi.nlm.nih.gov/books)...
- Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsyA V Delgado-Escueta
California Comprehensive Epilepsy Program, University of California, Los Angeles, School of Medicine 90073, USA
Adv Neurol 79:351-74. 1999....
- Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinationsA W Liu
UCLA Comprehensive Epilepsy Program, Department of Neurology, University of California, USA
Am J Med Genet 63:438-46. 1996..50 (95% confidence interval 0.05-0.99) for D6S294 and D6S272. Multipoint analyses and recombinations in three new families narrowed the JME locus to a 7 cM interval flanked by D6S272 and D6S257...
- Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsyMiyabi Tanaka
Department of Molecular and Medical Pharmacology, David Geffen School of Medicine, University of California Los Angeles, CA 90095, USA
Am J Hum Genet 82:1249-61. 2008....
- Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5Toshimitsu Suzuki
Laboratory for Neurogenetics, Brain Science Institute, The Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako Shi, Saitama 351 0198, Japan
Epilepsy Res 50:265-75. 2002..These analyses did not provide any evidences that these genes are responsible for the JME phenotype, and suggested that these may not be the EJM1 gene...
- Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotypeSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Japan
Hum Mol Genet 11:1263-71. 2002..Our data, thus, represent the first report of a novel childhood syndrome for LD. Our results also provide clues for distinct roles for the CBD-4 and DSP domains of laforin in the etiology of two subsyndromes of LD...
- The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodiesSubramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
Biochem Biophys Res Commun 313:1101-9. 2004..This is the first report demonstrating a direct association between the LD gene product and the disease-defining storage product, the Lafora bodies...
- Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivoVincent S Tagliabracci
Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Proc Natl Acad Sci U S A 104:19262-6. 2007..This study provides a molecular link between an observed biochemical property of laforin and the phenotype of a mouse model of Lafora disease. The results also have important implications for glycogen metabolism generally...
- The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domainSubramaniam Ganesh
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1, Hirosawa, Wakoshi 351 0198, Japan
Hum Mol Genet 12:2359-68. 2003....
- Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsyToshimitsu Suzuki
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako Shi, Saitama 351 0198 Japan
Neurosci Lett 405:126-31. 2006..Thus, the absence of significant and potentially functional mutations in the remaining 14 genes further supports the concept that Myoclonin1/EFHC1 is the EJM1 gene in chromosome 6p12...
- EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminusLaurence de Nijs
Center for Cellular and Molecular Neurobiology, University of Liege, Avenue de l Hopital 1, B 36, 4000 Liege, Belgium
Exp Cell Res 312:2872-9. 2006..Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division...
- Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan
Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Nat Genet 35:125-7. 2003..Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan accumulation and epilepsy...
- Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteinsSubramaniam Ganesh
Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kalyanpur, Kanpur, UP 208016, India
Neurosci Lett 387:62-7. 2005..Our study may provide valuable insights into the pathophysiology of LD and may aid in developing potential therapeutic targets...
- Treatment of myoclonic epilepsies of childhood, adolescence, and adulthoodMarco T Medina
National Autonomous University of Honduras, Tegucigalpa, Honduras
Adv Neurol 95:307-23. 2005
- Mutations in EFHC1 cause juvenile myoclonic epilepsyToshimitsu Suzuki
Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako Shi, Saitama, 351 0198, Japan
Nat Genet 36:842-9. 2004..3 C terminus. In patch-clamp analysis, EFHC1 specifically increased R-type Ca(2+) currents that were reversed by the mutations associated with JME...
- Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic featuresMarco T Medina
National Autonomous University of Honduras, Tegucigalpa, Honduras
Adv Neurol 95:197-215. 2005
- History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseasesPierre Genton
Centre Saint Paul, Hôpital Henri Gastaut, Marseille, France
Adv Neurol 95:1-14. 2005
- Lafora's Progressive Myoclonus EpilepsyAntonio Delgado Escueta; Fiscal Year: 2003..3) Search for the second gene (EPM2B) for Lafora's PME. These advances raise our hopes for developing treatment(s) for this fatal epilepsy. ..