Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Hang Lyu; Christian M. Boßelmann; Katrine M. Johannesen; Mahmoud Koko; Juan Dario Ortigoza-Escobar; Sergio Aguilera-Albesa; Deyanira Garcia-Navas Núñez; Tarja Linnankivi; Eija Gaily; Henriette J.A. van Ruiten; Ruth Richardson; Cornelia Betzler; Gabriella Horvath; Eva Brilstra; Niels Geerdink; Daniele Orsucci; Alessandra Tessa; Elena Gardella; Zofia Fleszar; Ludger Schöls; Holger Lerche; Rikke S. Møller; Yuanyuan Liu

doi:10.1016/j.ebiom.2023.104855

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Hang Lyu, Christian M. Boßelmann, Katrine M. Johannesen, Mahmoud Koko, Juan Dario Ortigoza-Escobar, Sergio Aguilera-Albesa, Deyanira Garcia-Navas Núñez, Tarja Linnankivi, Eija Gaily, Henriette J.A. van Ruiten, Ruth Richardson, Cornelia Betzler, Gabriella Horvath, Eva Brilstra, Niels Geerdink, Daniele Orsucci, Alessandra Tessa, Elena Gardella, Zofia Fleszar, Ludger SchölsHolger Lerche, Rikke S. Møller, Yuanyuan Liu

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	104855
Lehti	EBioMedicine
Vuosikerta	98
Sivumäärä	15
ISSN	2352-3964
DOI - pysyväislinkit	https://doi.org/10.1016/j.ebiom.2023.104855
Tila	Julkaistu - jouluk. 2023
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Lisätietoja

Publisher Copyright:
© 2023

Tieteenalat

3112 Neurotieteet

Pääsy asiakirjaan

10.1016/j.ebiom.2023.104855Lisenssi: CC BY

Clinical and electrophysiological featuresLopullinen julkaistu versio, 2,89 MBLisenssi: CC BY

Siteeraa tätä

Lyu, H., Boßelmann, C. M., Johannesen, K. M., Koko, M., Ortigoza-Escobar, J. D., Aguilera-Albesa, S., Garcia-Navas Núñez, D., Linnankivi, T., Gaily, E., van Ruiten, H. J. A., Richardson, R., Betzler, C., Horvath, G., Brilstra, E., Geerdink, N., Orsucci, D., Tessa, A., Gardella, E., Fleszar, Z., ... Liu, Y. (2023). Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia. EBioMedicine, 98, Artikkeli 104855. https://doi.org/10.1016/j.ebiom.2023.104855

@article{e28da413bd0347e4b25658f24c45ca69,

title = "Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia",

keywords = "3112 Neurosciences, Chronic ataxia, Episodic ataxia, Loss-of-function, Patch-clamp, Dfg, Funding BMBF, Scn8a, University of Tuebingen, the Italian Ministry of Health",

author = "Hang Lyu and Bo{\ss}elmann, {Christian M.} and Johannesen, {Katrine M.} and Mahmoud Koko and Ortigoza-Escobar, {Juan Dario} and Sergio Aguilera-Albesa and {Garcia-Navas N{\'u}{\~n}ez}, Deyanira and Tarja Linnankivi and Eija Gaily and {van Ruiten}, {Henriette J.A.} and Ruth Richardson and Cornelia Betzler and Gabriella Horvath and Eva Brilstra and Niels Geerdink and Daniele Orsucci and Alessandra Tessa and Elena Gardella and Zofia Fleszar and Ludger Sch{\"o}ls and Holger Lerche and M{\o}ller, {Rikke S.} and Yuanyuan Liu",

note = "Publisher Copyright: {\textcopyright} 2023",

year = "2023",

month = dec,

doi = "10.1016/j.ebiom.2023.104855",

language = "English",

volume = "98",

journal = "EBioMedicine",

issn = "2352-3964",

publisher = "Elsevier Scientific Publ. Co",

}

Lyu, H, Boßelmann, CM, Johannesen, KM, Koko, M, Ortigoza-Escobar, JD, Aguilera-Albesa, S, Garcia-Navas Núñez, D, Linnankivi, T , Gaily, E, van Ruiten, HJA, Richardson, R, Betzler, C, Horvath, G, Brilstra, E, Geerdink, N, Orsucci, D, Tessa, A, Gardella, E, Fleszar, Z, Schöls, L, Lerche, H, Møller, RS & Liu, Y 2023, 'Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia', EBioMedicine, Vuosikerta 98, 104855. https://doi.org/10.1016/j.ebiom.2023.104855

TY - JOUR

T1 - Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

AU - Lyu, Hang

AU - Boßelmann, Christian M.

AU - Johannesen, Katrine M.

AU - Koko, Mahmoud

AU - Ortigoza-Escobar, Juan Dario

AU - Aguilera-Albesa, Sergio

AU - Garcia-Navas Núñez, Deyanira

AU - Linnankivi, Tarja

AU - Gaily, Eija

AU - van Ruiten, Henriette J.A.

AU - Richardson, Ruth

AU - Betzler, Cornelia

AU - Horvath, Gabriella

AU - Brilstra, Eva

AU - Geerdink, Niels

AU - Orsucci, Daniele

AU - Tessa, Alessandra

AU - Gardella, Elena

AU - Fleszar, Zofia

AU - Schöls, Ludger

AU - Lerche, Holger

AU - Møller, Rikke S.

AU - Liu, Yuanyuan

PY - 2023/12

Y1 - 2023/12

KW - 3112 Neurosciences

KW - Chronic ataxia

KW - Episodic ataxia

KW - Loss-of-function

KW - Patch-clamp

KW - Dfg

KW - Funding BMBF

KW - Scn8a

KW - University of Tuebingen

KW - the Italian Ministry of Health

U2 - 10.1016/j.ebiom.2023.104855

DO - 10.1016/j.ebiom.2023.104855

M3 - Article

AN - SCOPUS:85175099333

SN - 2352-3964

VL - 98

JO - EBioMedicine

JF - EBioMedicine

M1 - 104855

ER -