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

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Article number	104855
Journal	EBioMedicine
Volume	98
Number of pages	15
ISSN	2352-3964
DOIs	https://doi.org/10.1016/j.ebiom.2023.104855
Publication status	Published - Dec 2023
MoE publication type	A1 Journal article-refereed

Fields of Science

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

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10.1016/j.ebiom.2023.104855Licence: CC BY

Clinical and electrophysiological featuresFinal published version, 2.89 MBLicence: CC BY

Cite this

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, Article 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, vol. 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 -