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Information on the principal investigator and host institution

Information of the project and the call

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Phenotypical variability of the epileptic syndromes due to Nav1.1 ion channel mutations.

2015/17/B/NZ4/02669

Keywords:

ion channels Nav1.1 SCN1A genetic epilepsy syndromes voltage-clamp expression systems kinetic properties HEKtsA201 cells nerve excitability study

Descriptors:

  • NZ4_7:
  • NZ2_1:
  • NZ5_3:

Panel:

NZ4 - Biology of tissues, organs and organisms: morphology and functions of animal's and human's systems, organs and organisms, experimental medicine, basics of neurology

Host institution :

Instytut Matki i Dziecka

woj. mazowieckie

Other projects carried out by the institution 

Principal investigator (from the host institution):

dr Dorota Maria Hoffman-Zacharska 

Number of co-investigators in the project: 11

Call: OPUS 9 - announced on 2015-03-16

Amount awarded: 820 880 PLN

Project start date (Y-m-d): 2016-04-27

Project end date (Y-m-d): 2021-12-26

Project duration:: 68 months (the same as in the proposal)

Project status: Project settled

Project description

Download the project description in a pdf file

Note - project descriptions were prepared by the authors of the applications themselves and placed in the system in an unchanged form.

Information in the final report

  • Publication in academic press/journals (7)
  • Articles in post-conference publications (2)
  1. The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.
    Authors:
    Valery Zayat, Zuzanna Kuczynska, Michal Liput, Erkan Metin, Sylwia Rzonca-Niewczas, Marta Smyk, Tomasz Mazurczak, Alicja Goszczanska-Ciuchta, Dorota Hoffman-Zacharska, Leonora Buzanska
    Academic press:
    Cells (rok: 2023, tom: 12(2), strony: 339), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/cells12020339 - link to the publication
  2. Genetic risk factors for neurological disorders in children with adverse events following immunization: a descriptive study of Polish case series.
    Authors:
    Agnieszka Charzewska, Iwona Terczyńska, Agata Lipiec, Tomasz Mazurczak, Paulina Górka-Skoczylas, Róża Szlendak, Karolina Kanabus, Renata Tataj, Mateusz Dawidziuk, Bartosz Wojtaś, Bartłomiej Gielniewski, Jerzy Bal, Elżbieta Stawicka, Dorota Hoffman-Zacharska
    Academic press:
    Journal of Molecular Sciences (rok: 2023, tom: 24(2), strony: 1117), Wydawca: MPDI
    Status:
    Published
    DOI:
    10.3390/ijms24021117 - link to the publication
  3. How Has the Treatment of Polish Children with Dravet Syndrome Changed?
    Authors:
    Zielińska A, Skarżyńska U, Górka-Skoczylas P, Mazurczak T, Kuźniar-Pałka A, Kanabus K, Hoffman-Zacharska D, Stawicka E.
    Academic press:
    Future Perspectives. Biomedicines (rok: 2024, tom: 12(6), strony: 1249), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/biomedicines12061249 - link to the publication
  4. Valproic acid potently inhibits interictal-like epileptiform activity in prefrontal cortex pyramidal neurons
    Authors:
    B Szulczyk, M. Pasierski, E. Nurowska
    Academic press:
    Neurosci Lett. (rok: 2019, tom: 708, strony: 134350), Wydawca: Elsevier
    Status:
    Published
    DOI:
    10.1016/j.neulet.2019.134350 - link to the publication
  5. Functional Characteristics of the Nav1.1 p.Arg1596Cys Mutation Associated with Varying Severity of Epilepsy Phenotypes.
    Authors:
    Witkowski G, Szulczyk B, Nurowska E, Jurek M, Pasierski M, Lipiec A, Charzewska A, Dawidziuk M, Milewski M, Owsiak S, Rola R, Sienkiewicz Jarosz H, Hoffman-Zacharska D.
    Academic press:
    International Journal of Molecular Science (rok: 2024, tom: 25(3), strony: 1745), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/ijms25031745 - link to the publication
  6. Concise Review: Stem Cell Models of SCN1A-Related Encephalopathies-Current Perspective and Future Therapies.
    Authors:
    Zayat V, Szlendak R, Hoffman-Zacharska D.
    Academic press:
    Cells (rok: 2022, tom: 4;11(19), strony: 3119), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/cells11193119. - link to the publication
  7. SCN1A-Characterization of the Gene's Variants in the Polish Cohort of Patients with Dravet Syndrome: One Center Experience.
    Authors:
    Stawicka E, Zielińska A, Górka-Skoczylas P, Kanabus K, Tataj R, Mazurczak T, Hoffman-Zacharska D.
    Academic press:
    Curr Issues Mol Biol (rok: 2024, tom: 46(5), strony: 4437-4451), Wydawca: MDPI
    Status:
    Published
    DOI:
    10.3390/cimb46050269. - link to the publication
  1. Comprehensive electrophysiological analysis of SCN1A Arg1569Cys mutation in a family with evolving epilepsy phenotypes.
    Authors:
    Hoffman-Zacharska D., Nurowska E., Witkowski G., Charzewska A., Jurek M., Szulczyk B., Milewski M., Dawidziuk M., Szczepanik E.
    Conference:
    7th Congress of the European Academy of Neurology (rok: 2021, ), Wydawca: Wiley
    Data:
    konferencja 44366
    Status:
    Published
  2. LOF or GOF – to which extend functional studies may be helpful in understanding SCN1A mutations.
    Authors:
    Hoffman-Zacharska Dorota, Nurowska Ewa, Szulczyk Bartłomiej, Jurek Marta, Milewski Michał, Paulina Gorka-Skoczylas, Agata Lipiec, Elzbieta Szczepanik
    Conference:
    34th International Epilepsy Congress (rok: 2021, ), Wydawca: Wiley
    Data:
    konferencja 44436
    Status:
    Published

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