Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.

Biophysical analysis Developmental epileptic encephalopathy G1625R Neuronal and structural modeling Patch-clamp SCN8A

Journal

Biochimica et biophysica acta. Molecular basis of disease
ISSN: 1879-260X
Titre abrégé: Biochim Biophys Acta Mol Basis Dis
Pays: Netherlands
ID NLM: 101731730

Informations de publication

Date de publication:
20 Mar 2024
Historique:
received: 17 12 2023
revised: 07 03 2024
accepted: 12 03 2024
medline: 23 3 2024
pubmed: 23 3 2024
entrez: 22 3 2024
Statut: aheadofprint

Résumé

Mutations in the SCN8A gene, encoding the voltage-gated sodium channel Na

Identifiants

DOI: 10.1016/j.bbadis.2024.167127 PMID: 38519006
pubmed: 38519006
pii: S0925-4439(24)00116-9
doi: 10.1016/j.bbadis.2024.167127
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

167127

Informations de copyright

Copyright © 2024. Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Shir Quinn (S)

Goldschleger Eye Research Institute, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Nan Zhang (N)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Timothy A Fenton (TA)

Neurology Department, MIND Institute, University of California, Davis, Sacramento, CA, United States.

Marina Brusel (M)

Goldschleger Eye Research Institute, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Preethi Muruganandam (P)

Neurology Department, MIND Institute, University of California, Davis, Sacramento, CA, United States.

Yoav Peleg (Y)

Life Sciences Core Facilities, Weizmann Institute of Science, Rehovot, Israel.

Moshe Giladi (M)

Department of Physiology and Pharmacology, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Yoni Haitin (Y)

Department of Physiology and Pharmacology, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.

Holger Lerche (H)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Haim Bassan (H)

Pediatric Neurology and Development Center, Shamir Medical Center (Assaf Harofeh), Zerifin, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Yuanyuan Liu (Y)

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Roy Ben-Shalom (R)

Neurology Department, MIND Institute, University of California, Davis, Sacramento, CA, United States.

Moran Rubinstein (M)

Goldschleger Eye Research Institute, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel. Electronic address: moranrub@tauex.tau.ac.il.

Classifications MeSH