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  1. AU="Wagnon, Jacy"
  2. AU="Eduardo Vicuña"
  3. AU="Li, Chun-Xia"
  4. AU="Pablos-Buitrón, Eva"
  5. AU="Tatum, Megan"
  6. AU="Eric S. Rothstein"
  7. AU="Zheng, Ru-Nan"
  8. AU="Lucia Araujo-Chaveron"
  9. AU=Wong D H T AU=Wong D H T
  10. AU="Yassin, Heba A"
  11. AU="Blight, Colin R"
  12. AU="Tang, Jack"
  13. AU="Michael E. Dorcas"
  14. AU="Oliveira, Fernando Rocha de"
  15. AU="Rossmanith, R."
  16. AU="Xi He"
  17. AU="Somenath Mitra"
  18. AU=Zhao Limei AU=Zhao Limei
  19. AU="Feng, Sheau-Line"
  20. AU="Goldman, Nick"
  21. AU="Oumezzine, Ma"
  22. AU="Elena D. Nosyreva"
  23. AU="Birara, Sunita"
  24. AU=Banegas Matthew P. AU=Banegas Matthew P.
  25. AU="Mendelow, Alexander David"
  26. AU="Pereira, Taci"
  27. AU="Natalie Taylor"
  28. AU="Moradi, Tayebeh"
  29. AU="Ramesh C. Santra"
  30. AU="Selvarajah, Aravinda"
  31. AU="Vaisman, Adva"
  32. AU="Rádiková, Žofia"
  33. AU=Poulin Stphane P.

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  1. Artikel: Neurons Are GIRKed in GNB1 Encephalopathy: Unraveling Pathogenic Mechanisms in a Complex Neurodevelopmental Disorder.

    Wagnon, Jacy L

    Epilepsy currents

    2023  Band 23, Heft 6, Seite(n) 381–382

    Sprache Englisch
    Erscheinungsdatum 2023-11-30
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/15357597231202859
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Channeling the Future of Pathogenicity Prediction for Genetic Variants in Epilepsy.

    Wagnon, Jacy L

    Epilepsy currents

    2023  Band 23, Heft 2, Seite(n) 118–120

    Sprache Englisch
    Erscheinungsdatum 2023-01-18
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/15357597221147354
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel: Yo GABA GABA! Convergent Mechanisms Driven by Gain-of-Function

    Wagnon, Jacy L

    Epilepsy currents

    2022  Band 22, Heft 3, Seite(n) 192–195

    Sprache Englisch
    Erscheinungsdatum 2022-04-13
    Erscheinungsland United States
    Dokumenttyp Journal Article
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/15357597221094939
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel: Back to Basics: A Role for Astrocyte Alkalization in Epileptogenesis.

    Wagnon, Jacy L

    Epilepsy currents

    2021  Band 21, Heft 4, Seite(n) 298–299

    Sprache Englisch
    Erscheinungsdatum 2021-05-24
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/15357597211018687
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: TANGO With SCN1A: Can This Molecular Dance Defeat Dravet Syndrome?

    Wagnon, Jacy L

    Epilepsy currents

    2020  Band 21, Heft 1, Seite(n) 60–61

    Sprache Englisch
    Erscheinungsdatum 2020-12-04
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/1535759720975750
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  6. Artikel: Promoting CRISPRa for Targeted Treatment of Epilepsy.

    Wagnon, Jacy L

    Epilepsy currents

    2020  Band 20, Heft 4, Seite(n) 227–229

    Sprache Englisch
    Erscheinungsdatum 2020-07-06
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Comment
    ZDB-ID 2270080-8
    ISSN 1535-7597
    ISSN 1535-7597
    DOI 10.1177/1535759720935825
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Functional analysis of three Na

    Solé, Laura / Wagnon, Jacy L / Tamkun, Michael M

    Biochimica et biophysica acta. Molecular basis of disease

    2020  Band 1866, Heft 12, Seite(n) 165959

    Abstract: The voltage-gated sodium channel ... ...

    Abstract The voltage-gated sodium channel Na
    Mesh-Begriff(e) Animals ; Cells, Cultured ; Female ; Humans ; Male ; Mutation ; NAV1.6 Voltage-Gated Sodium Channel/genetics ; Phenotype ; Rats ; Spasms, Infantile/genetics
    Chemische Substanzen NAV1.6 Voltage-Gated Sodium Channel
    Schlagwörter covid19
    Sprache Englisch
    Erscheinungsdatum 2020-09-08
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2020.165959
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: Seizures Cause Prolonged Impairment of Ventilation, CO

    Teran, Frida A / Sainju, Rup K / Bravo, Eduardo / Wagnon, Jacy / Kim, YuJaung / Granner, Alex / Gehlbach, Brian K / Richerson, George B

    The Journal of neuroscience : the official journal of the Society for Neuroscience

    2023  Band 43, Heft 27, Seite(n) 4959–4971

    Abstract: Sudden unexpected death in epilepsy (SUDEP) has been linked to respiratory dysfunction, but the mechanisms underlying this association remain unclear. Here we found that both focal and generalized convulsive seizures (GCSs) in epilepsy patients caused a ... ...

    Abstract Sudden unexpected death in epilepsy (SUDEP) has been linked to respiratory dysfunction, but the mechanisms underlying this association remain unclear. Here we found that both focal and generalized convulsive seizures (GCSs) in epilepsy patients caused a prolonged decrease in the hypercapnic ventilatory response (HCVR; a measure of respiratory CO
    Mesh-Begriff(e) Male ; Female ; Mice ; Animals ; Sudden Unexpected Death in Epilepsy ; Serotonin/pharmacology ; Carbon Dioxide/pharmacology ; Hypothermia/complications ; Seizures ; Respiration ; Epilepsy ; Respiration Disorders ; Death, Sudden/etiology ; Fenfluramine/pharmacology ; Serotonergic Neurons/physiology ; Body Temperature Regulation ; NAV1.6 Voltage-Gated Sodium Channel
    Chemische Substanzen Serotonin (333DO1RDJY) ; Carbon Dioxide (142M471B3J) ; Fenfluramine (2DS058H2CF) ; Scn8a protein, mouse ; NAV1.6 Voltage-Gated Sodium Channel ; Scn1a protein, mouse
    Sprache Englisch
    Erscheinungsdatum 2023-05-09
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 604637-x
    ISSN 1529-2401 ; 0270-6474
    ISSN (online) 1529-2401
    ISSN 0270-6474
    DOI 10.1523/JNEUROSCI.0450-23.2023
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel: Functional analysis of three Nav1.6 mutations causing Early Infantile Epileptic Encephalopathy

    Solé, Laura / Wagnon, Jacy L / Tamkun, Michael M

    Biochim Biophys Acta Mol Basis Dis

    Abstract: The voltage-gated sodium channel Nav1.6 is associated with more than 300 cases of epileptic encephalopathy. Nav1.6 epilepsy-causing mutations are spread over the entire channel's structure and only 10 % of mutations have been characterized at the ... ...

    Abstract The voltage-gated sodium channel Nav1.6 is associated with more than 300 cases of epileptic encephalopathy. Nav1.6 epilepsy-causing mutations are spread over the entire channel's structure and only 10 % of mutations have been characterized at the molecular level, with most of them being gain of function mutations. In this study, we analyzed three previously uncharacterized Nav1.6 epilepsy-causing mutations: G214D, N215D and V216D, located within a mutation hot-spot at the S3-S4 extracellular loop of Domain1. Voltage clamp experiments showed a 6-16 mV hyperpolarizing shift in the activation mid-point for all three mutants. V216D presented the largest shift along with decreased current amplitude, enhanced inactivation and a lack of persistent current. Recordings at hyperpolarized potentials indicated that all three mutants presented gating pore currents. Furthermore, trafficking experiments performed in cultured hippocampal neurons demonstrated that the mutants trafficked properly to the cell surface, with no significant differences regarding surface expression within the axon initial segment or soma compared to wild-type. These trafficking data suggest that the disease-causing consequences are due to only changes in the biophysical properties of the channel. Interestingly, the patient carrying the V216D mutation, which is the mutant with the greatest electrophysiological changes as compared to wild-type, exhibited the most severe phenotype. These results emphasize that these mutations will mandate unique treatment approaches, for normal sodium channel blockers may not work given that the studied mutations present gating pore currents. This study emphasizes the importance of molecular characterization of disease-causing mutations in order to improve the pharmacological treatment of patients.
    Schlagwörter covid19
    Verlag WHO
    Dokumenttyp Artikel
    Anmerkung WHO #Covidence: #32916281
    Datenquelle COVID19

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  10. Artikel: Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

    Wagnon, Jacy L / Meisler, Miriam H

    Frontiers in neurology

    2015  Band 6, Seite(n) 104

    Abstract: Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is ... ...

    Abstract Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, movement disorders, and a high incidence of sudden death (SUDEP). EIEE13 is caused by de novo missense mutations of evolutionarily conserved residues in the Nav1.6 channel protein. One-third of the mutations are recurrent, and many occur at CpG dinucleotides. In this review, we discuss the effect of pathogenic mutations on the structure of the channel protein, the rate of recurrent mutation, and changes in channel function underlying this devastating disorder.
    Sprache Englisch
    Erscheinungsdatum 2015-05-15
    Erscheinungsland Switzerland
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2015.00104
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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