Antonio V Delgado-Escueta

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi request reprint Genetics of idiopathic myoclonic epilepsies: an overview
    Antonio V Delgado-Escueta
    University of California, Los Angeles, California, USA
    Adv Neurol 89:161-84. 2002
  2. ncbi request reprint Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
    Hum Mol Genet 11:1251-62. 2002
  3. ncbi request reprint Recent developments in the quest for myoclonic epilepsy genes
    Antonio 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
  4. ncbi request reprint Advances in lafora progressive myoclonus epilepsy
    Antonio 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
  5. doi request reprint The quest for juvenile myoclonic epilepsy genes
    Antonio V Delgado-Escueta
    Epilepsy Genetics Genomics Laboratories, Neurology and Research Services, VA GLAHS West Los Angeles, CA, USA
    Epilepsy Behav 28:S52-7. 2013
  6. ncbi request reprint [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
  7. doi request reprint 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 all
    Antonio 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
  8. ncbi request reprint Advances in the genetics of progressive myoclonus epilepsy
    A 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
  9. doi request reprint DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy
    Dongsheng Bai
    Epilepsy Genetics Genomics Lab, CEP, UCLA and VA GLAHS, Los Angeles, California 90073, USA
    Epilepsia 50:1184-90. 2009
  10. ncbi request reprint Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up
    Iris 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

Research Grants

  1. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
  2. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010
  3. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010

Collaborators

  • J W Wheless
  • Subramaniam Ganesh
  • Julia N Bailey
  • R Guerrini
  • H Oguni
  • Marco T Medina
  • Astrid Rasmussen
  • K Yamakawa
  • Bobby P C Koeleman
  • T Suzuki
  • Richard Olsen
  • T Sugimoto
  • Michelle Bureau
  • Ignacio Pascual-Castroviejo
  • Blaise F D Bourgeois
  • Massimo Avoli
  • EAIN CORNFORD
  • RAMAN R SANKAR
  • M Elia
  • Peter Roach
  • Antonio Delgado Escueta
  • ANTONIO V contact DELGADO ESCUETA
  • Dongsheng Bai
  • Miyabi Tanaka
  • Jesus Machado-Salas
  • Reyna M Duron
  • Iris E Martinez-Juarez
  • Minerva López-Ruiz
  • Ricardo Ramos-Ramírez
  • Maria Elisa Alonso
  • Adriana Ochoa
  • Jeffrey L Noebels
  • Aurelio Jara-Prado
  • Vincent S Tagliabracci
  • Ramón H Castro Ortega
  • Rene Silva
  • Gregorio Pineda
  • Laurence de Nijs
  • Maria E Alonso
  • Lizardo Mija
  • Xiaochu Zhao
  • Pierre Genton
  • Berge A Minassian
  • Elayne M Chan
  • Patricia Guevara
  • Yumiko Ishikawa-Brush
  • Maria Rosa Avila-Costa
  • Jorge Guevara
  • MICHAEL ROGAWSKI
  • Ramon Castro-Ortega
  • Emily Schwartz
  • Robert L Macdonald
  • Alexander V Skurat
  • Wei Wang
  • Julie Turnbull
  • Jean Marie Girard
  • Anna A Depaoli-Roach
  • Katerina Perez-Gosiengfiao
  • Thierry Grisar
  • Christine Leon
  • Grazyna Chanas
  • Bernard Coumans
  • Takashi Ikeda
  • Ignacio Pascual Castroviejo
  • Lourdes León
  • Bernard Lakaye
  • Joseph Roger
  • Charlotte Dravet
  • Katerina Tanya Perez-Gosiengfiao
  • Nebojsa J Jovic
  • Stephen W Scherer
  • Giuliano Avanzini
  • Cameron A Ackerley
  • Saeed Bohlega
  • Constantine C Christopoulos
  • Leonarda Ianzano
  • Eva Andermann
  • Iulia Munteanu
  • Guy A Rouleau
  • Edwin J Young
  • Aurelio Jara
  • Ryoji Morita
  • Sergio Cordova
  • Gilbert Cadena
  • Francisco R Donnadieu
  • A W Liu
  • Jaime Ramos-Peek
  • L J Treiman
  • R S Sparkes
  • M N Gee

Detail Information

Publications32

  1. ncbi request reprint Genetics of idiopathic myoclonic epilepsies: an overview
    Antonio V Delgado-Escueta
    University of California, Los Angeles, California, USA
    Adv Neurol 89:161-84. 2002
  2. ncbi request reprint Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    Subramaniam 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...
  3. ncbi request reprint Recent developments in the quest for myoclonic epilepsy genes
    Antonio 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
    ....
  4. ncbi request reprint Advances in lafora progressive myoclonus epilepsy
    Antonio 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...
  5. doi request reprint The quest for juvenile myoclonic epilepsy genes
    Antonio 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...
  6. ncbi request reprint [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...
  7. doi request reprint 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 all
    Antonio 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
    ....
  8. ncbi request reprint Advances in the genetics of progressive myoclonus epilepsy
    A 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...
  9. doi request reprint DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy
    Dongsheng 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...
  10. ncbi request reprint Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up
    Iris 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...
  11. ncbi request reprint Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families
    Dongsheng 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...
  12. pmc Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice
    Jesus 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...
  13. pmc Effects on promoter activity of common SNPs in 5' region of GABRB3 exon 1A
    Miyabi 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...
  14. ncbi request reprint Seizures of idiopathic generalized epilepsies
    Reyna 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...
  15. ncbi request reprint Treatment of myoclonic epilepsies in infancy and early childhood
    Raman 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
  16. doi request reprint "Jasper's Basic Mechanisms of the Epilepsies" Workshop
    Jeffrey 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)...
  17. ncbi request reprint Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy
    A V Delgado-Escueta
    California Comprehensive Epilepsy Program, University of California, Los Angeles, School of Medicine 90073, USA
    Adv Neurol 79:351-74. 1999
    ....
  18. ncbi request reprint Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations
    A 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...
  19. pmc Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy
    Miyabi 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
    ....
  20. ncbi request reprint Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
    Subramaniam 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...
  21. ncbi request reprint The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies
    Subramaniam 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...
  22. ncbi request reprint Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5
    Toshimitsu 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...
  23. pmc Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
    Vincent 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...
  24. ncbi request reprint Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy
    Toshimitsu 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...
  25. ncbi request reprint EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus
    Laurence 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...
  26. ncbi request reprint The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1, Hirosawa, Wakoshi 351 0198, Japan
    Hum Mol Genet 12:2359-68. 2003
    ....
  27. ncbi request reprint Mutations in NHLRC1 cause progressive myoclonus epilepsy
    Elayne 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...
  28. ncbi request reprint Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins
    Subramaniam 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...
  29. ncbi request reprint Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood
    Marco T Medina
    National Autonomous University of Honduras, Tegucigalpa, Honduras
    Adv Neurol 95:307-23. 2005
  30. ncbi request reprint Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features
    Marco T Medina
    National Autonomous University of Honduras, Tegucigalpa, Honduras
    Adv Neurol 95:197-215. 2005
  31. ncbi request reprint History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseases
    Pierre Genton
    Centre Saint Paul, Hôpital Henri Gastaut, Marseille, France
    Adv Neurol 95:1-14. 2005
  32. ncbi request reprint Mutations in EFHC1 cause juvenile myoclonic epilepsy
    Toshimitsu 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...

Research Grants6

  1. Lafora's Progressive Myoclonus Epilepsy
    Antonio 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. ..
  2. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010
    ..Cures in JME can become a reality only by defining its many genes and then unravelling their epilepsy/disease causing mechanisms. ..
  3. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010
    ..Cures in JME can become a reality only by defining its many genes and then unravelling their epilepsy/disease causing mechanisms. ..