Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability.

Biological sciences Molecular biology Neuroscience

Journal

iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038

Informations de publication

Date de publication:
19 Jul 2024
Historique:
received: 16 02 2024
revised: 13 05 2024
accepted: 31 05 2024
medline: 18 7 2024
pubmed: 18 7 2024
entrez: 18 7 2024
Statut: epublish

Résumé

Hundreds of novel candidate human epilepsy-associated genes have been identified thanks to advancements in next-generation sequencing and large genome-wide association studies, but establishing genetic etiology requires functional validation. We generated a list of >2,200 candidate epilepsy-associated genes, of which 48 were developed into stable loss-of-function (LOF) zebrafish models. Of those 48, evidence of seizure-like behavior was present in 5 (

Identifiants

DOI: 10.1016/j.isci.2024.110172 PMID: 39021799 PMC: PMC11253282
pubmed: 39021799
doi: 10.1016/j.isci.2024.110172
pii: S2589-0042(24)01397-X
pmc: PMC11253282
doi:

Types de publication

Journal Article

Langues

eng

Pagination

110172

Informations de copyright

© 2024 The Author(s).

Déclaration de conflit d'intérêts

All sgRNA guides were generated and donated in collaboration with Synthego (Redwood City, CA, USA).

Auteurs

Christopher Mark LaCoursiere (CM)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

Jeremy F P Ullmann (JFP)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

Hyun Yong Koh (HY)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Departments of Neuroscience and Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, TX 77030, USA.

Laura Turner (L)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

Cristina M Baker (CM)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Kavli Institute for Systems Neuroscience, Norwegian University of Science and Technology, 7034 Trondheim, Norway.

Barbara Robens (B)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.

Wanqing Shao (W)

Research Computing, Department of Information Technology, Boston Children's Hospital, Boston, MA 02115, USA.

Alexander Rotenberg (A)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

Christopher M McGraw (CM)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

Annapurna H Poduri (AH)

F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.
Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.

Classifications MeSH