Search Results - "Escueta, V."

Brachytherapy for high grade prostate cancer induces distinct changes in circulating CD4 and CD8 T cells – Implications for systemic control by Wang, H., Mendez, L., Morton, G., Loblaw, A., Chung, H.T., Cheung, P., Mesci, A., Escueta, V., Petchiny, T.N., Huang, X., White, S.D., Downes, M., Vesprini, D., Liu, S.K.

“…•Treatment with EBRT + BT induces distinct modulation of peripheral CD4/CD8 ratio in high-grade prostate cancer patients.•Patients with long term response that…”
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Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy by Gilsoul, Maxime, Grisar, Thierry, Delgado-Escueta, Antonio V., de Nijs, Laurence, Lakaye, Bernard

“…Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is…”
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Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo by Tagliabracci, Vincent S, Turnbull, Julie, Wang, Wei, Girard, Jean-Marie, Zhao, Xiaochu, Skurat, Alexander V, Delgado-Escueta, Antonio V, Minassian, Berge A, DePaoli-Roach, Anna A, Roach, Peter J

“…Lafora disease is a progressive myoclonus epilepsy with onset typically in the second decade of life and death within 10 years. Lafora bodies, deposits of…”
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Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy by Tanaka, Miyabi, Olsen, Richard W., Medina, Marco T., Schwartz, Emily, Alonso, Maria Elisa, Duron, Reyna M., Castro-Ortega, Ramon, Martinez-Juarez, Iris E., Pascual-Castroviejo, Ignacio, Machado-Salas, Jesus, Silva, Rene, Bailey, Julia N., Bai, Dongsheng, Ochoa, Adriana, Jara-Prado, Aurelio, Pineda, Gregorio, Macdonald, Robert L., Delgado-Escueta, Antonio V.

“…Childhood absence epilepsy (CAE) accounts for 10% to 12% of epilepsy in children under 16 years of age. We screened for mutations in the GABA A receptor…”
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EFHC1 interacts with microtubules to regulate cell division and cortical development by Grisar, Thierry, LoTurco, Joseph J, Léon, Christine, Delgado-Escueta, Antonio V, Lakaye, Bernard, Nguyen, Laurent, de Nijs, Laurence

“…This study identifies EFHC1 as a microtubule-associated protein that regulates neuronal cell division and migration. Mutations in EHC1 have been linked to…”
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“Jasper’s Basic Mechanisms of the Epilepsies” Workshop by Noebels, Jeffrey L., Avoli, Massimo, Rogawski, Michael, Olsen, Richard, Delgado‐Escueta, Antonio V.

“…Summary In 1969, H.H. Jasper, A.A. Ward, and A. Pope and the Public Health Service Advisory Committee on the Epilepsies of the National Institutes of Health…”
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EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality by Bailey, Julia N., Patterson, Christopher, de Nijs, Laurence, Durón, Reyna M., Nguyen, Viet-Huong, Tanaka, Miyabi, Medina, Marco T., Jara-Prado, Aurelio, Martínez-Juárez, Iris E., Ochoa, Adriana, Molina, Yolli, Suzuki, Toshimitsu, Alonso, María E., Wight, Jenny E., Lin, Yu-Chen, Guilhoto, Laura, Targas Yacubian, Elza Marcia, Machado-Salas, Jesús, Daga, Andrea, Yamakawa, Kazuhiro, Grisar, Thierry M., Lakaye, Bernard, Delgado-Escueta, Antonio V.

“…EFHC1 variants are the most common mutations in inherited myoclonic and grand mal clonic-tonic-clonic (CTC) convulsions of juvenile myoclonic epilepsy (JME)…”
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Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development by DE NIJS, Laurence, WOLKOFF, Nathalie, COUMANS, Bernard, DELGADO-ESCUETA, Antonio V, GRISAR, Thierry, LAKAYE, Bernard

“…Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized epilepsies, while homozygous…”
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Mutations in EFHC1 cause juvenile myoclonic epilepsy by Delgado-Escueta, Antonio V, Yamakawa, Kazuhiro, Suzuki, Toshimitsu, Aguan, Kripamoy, Alonso, Maria E, Shi, Jun, Hara, Yuji, Nishida, Motohiro, Numata, Tomohiro, Medina, Marco T, Takeuchi, Tamaki, Morita, Ryoji, Bai, Dongsheng, Ganesh, Subramaniam, Sugimoto, Yoshihisa, Inazawa, Johji, Bailey, Julia N, Ochoa, Adriana, Jara-Prado, Aurelio, Rasmussen, Astrid, Ramos-Peek, Jaime, Cordova, Sergio, Rubio-Donnadieu, Francisco, Inoue, Yushi, Osawa, Makiko, Kaneko, Sunao, Oguni, Hirokazu, Mori, Yasuo

“…Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed a region associated with JME…”
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Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy by Scherer, Stephen W, Minassian, Berge A, Lee, Jeffrey R, Herbrick, Jo-Anne, Huizenga, Jack, Soder, Sylvia, Mungall, Andrew J, Dunham, Ian, Gardner, Rebecca, Fong, Chung-yan G, Carpenter, Stirling, Jardim, Laura, Satishchandra, P, Andermann, Eva, Snead, O. Carter, Lopes-Cendes, Iscia, Tsui, Lap-Chee, Delgado-Escueta, Antonio V, Rouleau, Guy A

“…Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological…”
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Reduction in rate of epilepsy from neurocysticercosis by community interventions: The Salamá, Honduras Study by Medina, Marco T., Aguilar‐Estrada, Rafael L., Alvarez, Allan, Durón, Reyna M., Martínez, Lizandro, Dubón, Sofia, Estrada, Ana L., Zúniga, Concepción, Cartagena, Dora, Thompson, Arnold, Ramirez, Eunice, Banegas, Lenín, Osorio, Juan R., Delgado‐Escueta, Antonio V., Collins, Julianne S., Holden, Kenton R.

“…Summary Purpose:  Epilepsy is highly prevalent in developing countries like Honduras, with few studies evaluating this finding. This population‐based study…”
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Effects on promoter activity of common SNPs in 5′ region of GABRB3 exon 1A by Tanaka, Miyabi, Bailey, Julia N., Bai, Dongsheng, Ishikawa-Brush, Yumiko, Delgado-Escueta, Antonio V., Olsen, Richard W.

“…Summary Purpose:  The β3 subunit of the γ‐aminobutyric acid type A receptors (GABAA–Rs) is an essential component of GABAA–Rs in fetal, perinatal, and adult…”
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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 by DELGADO-ESCUETA, Antonio V, BOURGEOIS, Blaise F. D

“…PRO: In the past decade, genotyping has started to help the neurologic practitioner treat patients with three types of epilepsy causing mutations, namely (1)…”
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Debate: Does genetic information in humans help us treat patients? by Delgado‐Escueta, Antonio V., Bourgeois, Blaise F.D.

“…PRO—Summary In the past decade, genotyping has started to help the neurologic practitioner treat patients with three types of epilepsy causing mutations,…”
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Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice by Ganesh, Subramaniam, Delgado-Escueta, Antonio V., Sakamoto, Toshiro, Avila, Maria Rosa, Machado-Salas, Jesus, Hoshii, Yoshinobu, Akagi, Takumi, Gomi, Hiroshi, Suzuki, Toshimitsu, Amano, Kenji, Agarwala, Kishan Lal, Hasegawa, Yuki, Bai, Dong-Sheng, Ishihara, Tokuhiro, Hashikawa, Tsutomu, Itohara, Shigeyoshi, Cornford, Eain M., Niki, Hiroaki, Yamakawa, Kazuhiro

“…Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause Lafora disease (LD), a progressive and invariably fatal epilepsy with…”
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Sacred disease secrets revealed: the genetics of human epilepsy by Turnbull, Julie, Lohi, Hannes, Kearney, Jennifer A., Rouleau, Guy A., Delgado-Escueta, Antonio V., Meisler, Miriam H., Cossette, Patrick, Minassian, Berge A.

“…Neurons throughout the brain suddenly discharging synchronously and recurrently cause primarily generalized seizures. Discharges localized awhile in one part…”
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Importin-8 Modulates Division of Apical Progenitors, Dendritogenesis and Tangential Migration During Development of Mouse Cortex by Nganou, Gerry, Silva, Carla G, Gladwyn-Ng, Ivan, Engel, Dominique, Coumans, Bernard, Delgado-Escueta, Antonio V, Tanaka, Miyabi, Nguyen, Laurent, Grisar, Thierry, de Nijs, Laurence, Lakaye, Bernard

“…The building of the brain is a multistep process that requires the coordinate expression of thousands of genes and an intense nucleocytoplasmic transport of…”
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Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy by MEDINA, M. T, SUZUKI, T, MONTOYA, M. C, OCHOA, A, JARA PRADO, A, TANAKA, M, MACHADO-SALAS, J, FUJIMOTO, S, ITO, M, HAMANO, S, SUGITA, K, UEDA, Y, ALONSO, M. E, OSAWA, M, OGUNI, H, RUBIO-DONNADIEU, F, YAMAKAWA, K, DELGADO-ESCUETA, A. V, DURON, R. M, MARTINEZ-JUAREZ, I. E, BAILEY, J. N, BAI, D, INOUE, Y, YOSHIMURA, I, KANEKO, S

“…Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in…”
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The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies by Ganesh, Subramaniam, Tsurutani, Naomi, Suzuki, Toshimitsu, Hoshii, Yoshinobu, Ishihara, Tokuhiro, Delgado-Escueta, Antonio V, Yamakawa, Kazuhiro

“…Lafora’s disease (LD) is an autosomal recessive and fatal form of epilepsy with onset in late childhood or adolescence. One of the characteristic features of…”
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Mutations in NHLRC1 cause progressive myoclonus epilepsy by Minassian, Berge A, Scherer, Stephen W, Chan, Elayne M, Young, Edwin J, Ianzano, Leonarda, Munteanu, Iulia, Zhao, Xiaochu, Christopoulos, Constantine C, Avanzini, Giuliano, Elia, Maurizio, Ackerley, Cameron A, Jovic, Nebojsa J, Bohlega, Saeed, Andermann, Eva, Rouleau, Guy A, Delgado-Escueta, Antonio V

“…Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan accumulations. We previously…”
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