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  1. Book ; Online ; E-Book: Progressive myoclonus epilepsies

    Delgado-Escueta, Antonio V. / Minassian, Berge A. / Striano, Pasquale / Avanzini, Giuliano

    state of the art

    (Mariani Foundation paediatric neurology series ; 30)

    2017  

    Author's details edited by Berge A. Minassian, Pasquale Striano, Giuliano Avanzini ; preface by Antonio V. Delgado-Escueta
    Series title Mariani Foundation paediatric neurology series ; 30
    Collection
    Keywords Myoclonic Epilepsies, Progressive
    Language English
    Size 1 Online-Ressource (x, 206 Seiten)
    Publisher John Libbey Eurotext
    Publishing place Montrouge
    Publishing country France
    Document type Book ; Online ; E-Book
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    HBZ-ID HT019511602
    ISBN 978-2-7420-1524-5 ; 9782742014880 ; 2-7420-1524-8 ; 2742014888
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  2. Book ; Online: Myoclonic epilepsies

    Delgado-Escueta, Antonio V.

    (Advances in neurology : v. 95 ; v. 95)

    2005  

    Author's details editors, Antonio V. Delgado-Escueta
    Series title Advances in neurology : v. 95 ; v. 95
    Keywords Epilepsies, myoclonic
    Language English
    Size 1 Online-Ressource (xxiii, 331 Seiten), Illustrationen
    Publisher Lippincott Williams & Wilkins
    Publishing place Philadelphia
    Document type Book ; Online
    Note Includes bibliographical references and index
    Remark Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
    ISBN 978-0-7817-5248-0 ; 0-7817-5248-5
    Database ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

    Full text online

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  3. Book ; Conference proceedings: Myoclonic epilepsies

    Delgado-Escueta, Antonio V.

    [the book is partly based on an international workshop organized in honor of Charlotte Dravet ...]

    (Advances in neurology ; 95)

    2005  

    Author's details ed. Antonio V. Delgado-Escueta
    Series title Advances in neurology ; 95
    Collection
    Keywords Epilepsies, Myoclonic ; Myoklonus ; Epilepsie ; Nervendegeneration
    Subject Fallsucht ; Neurodegenerative Krankheit ; Neurodegenerative Erkrankung ; Myoklonie
    Language English
    Size XXIII, 331 S.: Ill., graph. Darst.
    Publisher Lippincott Williams & Wilkins
    Publishing place Philadelphia u.a.
    Publishing country United States
    Document type Book ; Conference proceedings
    HBZ-ID HT014221901
    ISBN 0-7817-5248-5 ; 978-0-7817-5248-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 198 -95- verfügbar in Königswinter Königswinter

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  4. Article ; Online: A Novel Mutation in Lafora Disease and Update on Pathophysiology and Future Treatments.

    Nordli, Douglas R / Rao, Chethan K / Delgado-Escueta, Antonio V / Galan, Fernando

    Child neurology open

    2022  Volume 9, Page(s) 2329048X221126361

    Abstract: Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed. ...

    Abstract Lafora disease is a rare refractory epilepsy that results in death. This report highlights two cases of lafora disease and introduces a novel mutation in the patients. A review of the pathophysiology and future therapies is reviewed.
    Language English
    Publishing date 2022-10-05
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2785453-X
    ISSN 2329-048X ; 2329-048X
    ISSN (online) 2329-048X
    ISSN 2329-048X
    DOI 10.1177/2329048X221126361
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. Reply.

    Delgado-Escueta, Antonio V / Bailey, Julia N

    The New England journal of medicine

    2019  Volume 380, Issue 16, Page(s) e24

    MeSH term(s) Electroencephalography ; Humans ; Myoclonic Epilepsy, Juvenile ; Protein Serine-Threonine Kinases
    Chemical Substances Protein Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2019-04-12
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMc1805100
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ua VI Zs.34: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
    ab Jg. 2022: Lesesaal (EG)

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  6. Book ; Conference proceedings: Pregnancy and teratogenesis in epilepsy

    Delgado-Escueta, Antonio V.

    [proceedings of ... a symposium held in Santa Monica, Calif., July 13 - 14, 1990

    (Neurology ; 42, Suppl. 5)

    1992  

    Institution Symposium Workshop on Pregnancy and Teratogenesis
    Author's details Symposium Workshop on Pregnancy and Teratogenesis]. Antonio V. Delgado-Escueta ..., suppl. ed
    Series title Neurology ; 42, Suppl. 5
    Collection
    Keywords Epilepsy / in pregnancy / congresses ; Abnormalities, Drug-Induced / congresses ; Anticonvulsants / adverse effects / congresses ; Epilepsie ; Schwangerschaft ; Teratogenese
    Subject Missbildungsentwicklung ; Gestation ; Gravidität ; Fallsucht
    Language English
    Size 160 S. : graph. Darst.
    Publisher Advanstar Communications
    Publishing place Cleveland, OH
    Publishing country United States
    Document type Book ; Conference proceedings
    HBZ-ID HT004244536
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Ui II Zs 153 -42,4,Suppl.5- verfügbar in Königswinter Königswinter

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  7. Article ; Online: Lafora progressive myoclonus epilepsy: glycogen storage disease vs neurodegenerative disease.

    Delgado-Escueta, Antonio V

    Neurology

    2012  Volume 79, Issue 1, Page(s) 21–22

    MeSH term(s) Animals ; Glucans/antagonists & inhibitors ; Glucans/metabolism ; Lafora Disease/metabolism
    Chemical Substances Glucans ; polyglucosan (9012-72-0)
    Language English
    Publishing date 2012-05-23
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0b013e31825dcea6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Ui II Zs.153: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MG 18: Show issues
    Zs.MO 374: Show issues

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  8. Article ; Online: Association of variants in the ABCB1, CYP2C19 and CYP2C9 genes for Juvenile Myoclonic Epilepsy.

    Jara-Prado, Aurelio / Guerrero-Camacho, Jorge Luis / Ángeles-López, Quetzalli Denisse / Ochoa-Morales, Adriana / Dávila-Ortiz de Montellano, David José / Ramírez-García, Miguel Ángel / Breda-Yepes, Michelle / Durón, Reyna M / Delgado-Escueta, Antonio V / Barrios-González, Diego A / Martínez-Juárez, Iris E

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 45, Issue 4, Page(s) 1635–1643

    Abstract: Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during ... ...

    Abstract Juvenile myoclonic epilepsy (JME) is the most common of the generalized genetic epilepsies, with multiple causal and susceptibility genes; however, its etiopathogenesis is mainly unknown. The toxic effects caused by xenobiotics in cells occur during their metabolic transformation, mainly by enzymes belonging to cytochrome P450. The elimination of these compounds by transporters of the ABC type protects the central nervous system, but their accumulation causes neuronal damage, resulting in neurological diseases. The present study has sought the association between single nucleotide genetic variants of the CYP2C9, CYP2C19, and ABCB1 genes and the development of JME in patients compared to healthy controls. The CC1236 and GG2677 genotypes of ABCB1 in women; allele G 2677, genotypes GG 2677 and CC 3435 in men; the CYP2C19*2A allele, and the CYP2C19*3G/A genotype in both sexes were found to be risk factors for JME. Furthermore, carriers of the TTGGCC genotype combination of the ABCB1 gene (1236/2677/3435) have a 10.5 times higher risk of developing JME than non-carriers. Using the STRING database, we found an interaction between the proteins encoded by these genes and other possible proteins. These findings indicate that the CYP450 system and ABC transporters could interact with other genes in the JME.
    MeSH term(s) Male ; Humans ; Female ; Myoclonic Epilepsy, Juvenile/genetics ; Cytochrome P-450 CYP2C9/genetics ; Cytochrome P-450 CYP2C19/genetics ; Genotype ; Epilepsy, Generalized ; ATP Binding Cassette Transporter, Subfamily B/genetics
    Chemical Substances Cytochrome P-450 CYP2C9 (EC 1.14.13.-) ; Cytochrome P-450 CYP2C19 (EC 1.14.14.1) ; CYP2C9 protein, human (EC 1.14.13.-) ; CYP2C19 protein, human (EC 1.14.14.1) ; ABCB1 protein, human ; ATP Binding Cassette Transporter, Subfamily B
    Language English
    Publishing date 2023-10-25
    Publishing country Italy
    Document type Journal Article
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-07124-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1877: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  9. Book ; Conference proceedings: Basic mechanisms of the epilepsies

    Delgado-Escueta, Antonio V.

    molecular and cellular approaches ; [based on workshops held at the Kroc Foundation headquarters in Calif. in Dec. 1982 and during the International Symposium on Basic Mechanisms of the Epilepsies, held in San Diego, Dec. 1983]

    (Advances in neurology ; 44)

    1986  

    Institution Kroc Foundation
    Event/congress International Symposium on Basic Mechanisms of the Epilepsies (1983, SanDiegoCalif.)
    Author's details ed. Antonio V. Delgado-Escueta
    Series title Advances in neurology ; 44
    Collection
    Keywords Epilepsy / congresses ; Epilepsie ; Neurophysiologie
    Subject Nervenphysiologie ; Nervensystem ; Fallsucht
    Size XXIV, 1096 S. : Ill., graph. Darst.
    Publisher Raven Press
    Publishing place New York
    Publishing country United States
    Document type Book ; Conference proceedings
    HBZ-ID HT002562638
    ISBN 0-88167-152-5 ; 978-0-88167-152-0
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Se 198 -44- verfügbar in Königswinter Königswinter

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  10. Book ; Conference proceedings: Basic mechanisms of the epilepsies

    Delgado-Escueta, Antonio V.

    proceed. of a workshop at the Kroc Foundation headquarters, Santa Ynez, Calif., Dec. 7 - 9, 1982

    (Annals of neurology ; 16, Suppl)

    1984  

    Author's details suppl. assoc. ed. Antonio V. Delgado-Escueta
    Series title Annals of neurology ; 16, Suppl
    Collection
    Keywords EPILEPSY / CONGRESSES
    Language English
    Size VII, S158 S.
    Publisher American Neurolog. Assoc
    Publishing place Boston, Mass
    Publishing country United States
    Document type Book ; Conference proceedings
    HBZ-ID HT002489655
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    Zs A 1370 -16,Suppl.- verfügbar in Königswinter Königswinter

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