基本信息
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Bio
Antonio V. Delgado-Escueta, MD, PhD (Honoris Causa) (aka Antonio V. Escueta) trained as an adult and child neurologist at the Hospital of University of Pennsylvania and Children's Hospital of Philadelphia. As part of his training in Epileptology and EEG, he worked for a year doing intracellular recordings in the motor cortex of cats with primary and mirror epileptogenic zones. Then, he trained for 4 years in biochemical genetics at Duke Univ Medical Center with James Wyngaarden and Stanley Appel, where he acquired experience in bench biochemistry, enzymology, protein chemistry and human genetics.
In 1969, Delgado-Escueta was founding Director of the VA funded Epilepsy Center at the Durham VA Medical Center and NIH funded Molecular Epilepsy Research Laboratories at Duke University Medical Center.
In 1975, Delgado-Escueta moved to the University of California Los Angeles (UCLA), where he established a DNA biochemistry lab and grew with more experience in human genetics as he collaborated with Robert Sparkes, Division Chief of Medical Genetics.
In 1979, Delgado-Escueta initiated and founded the NIH funded Comprehensive Epilepsy Program at UCLA, and directed the Molecular Neuroscience Labs and Epilepsy Genetics/Genomics Labs, and the VA funded Regional Epilepsy Center at the VA Greater Los Angeles Healthcare System in West Los Angeles.
Delgado-Escueta's books reflect his expertise in clinical epilepsies and basic epilepsy research -- he was senior editor and PI of an NIH conference grant that supported 3 editions of Jasper’s Basic Mechanisms of the Epilepsies (1986, 1999, 2012, 2023), Status Epilepticus: Mechanisms of Brain Damage and Treatment (1983), Frontal Lobe Seizures & Epilepsies (1992), Myoclonic Epilepsies of Childhood, Adolescence and Adulthood (2006), and one of the editors of Epilepsy Syndromes in Infancy, Childhood and Adolescence (2012, 2019).
Delgado-Escueta's primary research is in the genetics of common epilepsies, such as Juvenile Myoclonic Epilepsies and Childhood Absence Epilepsies, and in rare progressive and fatal epilepsies known as Lafora Disease or Lafora Progressive Myoclonus Epilepsy.
Delgado-Escueta initiated and co-founded the international GENESS (GENetic EpilepsieS Studies) consortium in 1992, which, with his international collaborators at other sites, has been successful at recruiting over one thousand genetic epilepsy patients and families. To date, this consortium, with Delgado-Escueta and his previous postdoctoral fellows and collaborators, have mapped three separate and different loci and identified three epilepsy genes (EFHC1, ICK, IMPORTIN8) for Juvenile Myoclonic Epilepsy (JME); and one gene (GABRB8) for remitting Childhood Absence (CAE). His lab has also identified three new putative genes for JME (PROSER1, MYOFERLIN, ZFEF1 (Zinc finger zz type with EF hand) using whole exome sequencing and they are in the process of publishing these new epilepsy genes. Delgado-Escueta's lab also mapped a locus and helped identify the pathogenic variation in EPM2A gene and the encoded Laforin dual specificity protein tyrosine phosphatase in 6q24 for Lafora’s disease, a rare but fatal and rapidly progressive form of the progressive myoclonus epilepsy syndromes.
Delgado-Escueta and his collaborators (including previous postdocs) continue work on basic disease mechanisms of new epilepsy genes, separating the primary actions of these genes from their downstream effects, and identifying shared disease pathways that should be the target of curative drugs.
Delgado-Escueta is part of the Lafora Epilepsy Cure Initiative (LECI), an international collaboration which just completed the Natural History Study of Lafora Disease and is gearing up to conduct clinical trials to cure Lafora Epilepsy.
Research Interests
Papers共 342 篇Author StatisticsCo-AuthorSimilar Experts
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Aurelio Jara-Prado,Jorge Luis Guerrero-Camacho, Quetzalli Denisse Ángeles-López,Adriana Ochoa-Morales,David José Dávila-Ortiz de Montellano,Miguel Ángel Ramírez-García, Michelle Breda-Yepes,Reyna M. Durón,Antonio V. Delgado-Escueta,Diego A. Barrios-González,Iris E. Martínez-Juárez
Neurological Sciencesno. 4 (2024): 1635-1643
Iris E. Martínez‐Juárez,Diego A. Barrios-González,Aurelio Jara‐Prado, Fernando Sotelo-Díaz, José Vidal Martínez, García Castillo, Patricia J. Morales Chinga,Adriana Ochoa,Antonio V. Delgado‐Escueta
Springer eBookspp.371-389, (2023)
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Child Neurology Open (2022): 2329048X221126361-2329048X221126361
Antonio Delgado-Escueta,Viet-Huong Nguyen,Reyna M. Duron,Cesia W. Garrido,Alenoush Aramian,Julia N. Bailey,Deborah Holder,Arthur Partikian, Nancy Allison McNamara, Rene Silva Somoza
Antonio Delgado-Escueta,Viet-Huong Nguyen,Alenoush Aramian, Jessica Bercow,Roberto Michelucci, Marcella Broli,Maria Tappata,Berge Minassian,Alison Dolce,Souad Messahel,Jose Serratosa, Maria Machio,
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2019 IEEE 39th Central America and Panama Convention (CONCAPAN XXXIX)pp.1-4, (2019)
Iris E. Martínez-Juárez,Laura Elena Hernández-Vanegas,Nayelli Rodríguez y Rodríguez, Jorge Alfredo León-Aldana,Antonio V. Delgado-Escueta
Pharmacoresistance in Epilepsy (2019)
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2019 IEEE 39th Central America and Panama Convention (CONCAPAN XXXIX)pp.1-5, (2019)
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Author Statistics
#Papers: 453
#Citation: 13674
H-Index: 63
G-Index: 63
Sociability: 7
Diversity: 2
Activity: 2
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