Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.

Genomics Neuroscience Structural Biology

Journal

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

Informations de publication

Date de publication:
23 Oct 2020
Historique:
received: 18 06 2020
revised: 06 09 2020
accepted: 08 09 2020
entrez: 21 10 2020
pubmed: 22 10 2020
medline: 22 10 2020
Statut: epublish

Résumé

Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play a role in disease pathogenesis. However, no unbiased, large-scale genomic study of TN has been performed to date. Analysis of 290 whole exome-sequenced TN probands, including 20 multiplex kindreds and 70 parent-offspring trios, revealed enrichment of rare, damaging variants in GABA receptor-binding genes in cases. Mice engineered with a TN-associated

Identifiants

pubmed: 33083721
doi: 10.1016/j.isci.2020.101552
pii: S2589-0042(20)30744-6
pmc: PMC7554653
doi:

Types de publication

Journal Article

Langues

eng

Pagination

101552

Subventions

Organisme : NIA NIH HHS
ID : T35 AG049685
Pays : United States
Organisme : NHLBI NIH HHS
ID : R00 HL143036
Pays : United States
Organisme : NHGRI NIH HHS
ID : U54 HG006504
Pays : United States
Organisme : NHLBI NIH HHS
ID : K99 HL143036
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007205
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Organisme : NICHD NIH HHS
ID : T32 HD007149
Pays : United States

Informations de copyright

© 2020 The Authors.

Déclaration de conflit d'intérêts

The authors declare no competing interests.

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Auteurs

Weilai Dong (W)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Sheng Chih Jin (SC)

Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.

August Allocco (A)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Xue Zeng (X)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Amar H Sheth (AH)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Shreyas Panchagnula (S)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Annie Castonguay (A)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.

Louis-Étienne Lorenzo (LÉ)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.

Barira Islam (B)

University College London, School of Pharmacy, London, England.

Geneviève Brindle (G)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.

Karine Bachand (K)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.

Jamie Hu (J)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Agata Sularz (A)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Jonathan Gaillard (J)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Jungmin Choi (J)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.
Department of Biomedical Sciences, Korea University College of Medicine, 02841 Seoul, Korea.

Ashley Dunbar (A)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Carol Nelson-Williams (C)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

Emre Kiziltug (E)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Charuta Gavankar Furey (CG)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Sierra Conine (S)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Phan Q Duy (PQ)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Adam J Kundishora (AJ)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Erin Loring (E)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.

Boyang Li (B)

Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA.

Qiongshi Lu (Q)

Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA.

Geyu Zhou (G)

Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.

Wei Liu (W)

Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.

Xinyue Li (X)

School of Data Science, City University of Hong Kong, Hong Kong, China.

Michael C Sierant (MC)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Shrikant Mane (S)

Yale Center for Genome Analysis, West Haven, CT, USA.

Christopher Castaldi (C)

Yale Center for Genome Analysis, West Haven, CT, USA.

Francesc López-Giráldez (F)

Yale Center for Genome Analysis, West Haven, CT, USA.

James R Knight (JR)

Yale Center for Genome Analysis, West Haven, CT, USA.

Raymond F Sekula (RF)

Department of Neurological Surgery, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

J Marc Simard (JM)

Department of Neurosurgery, University of Maryland School of Medicine, Baltimore, MD, USA.

Emad N Eskandar (EN)

Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, New York.

Christopher Gottschalk (C)

Headache Medicine, Department of Neurology, Yale School of Medicine, New Haven, CT, USA.

Jennifer Moliterno (J)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Murat Günel (M)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Jason L Gerrard (JL)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.

Sulayman Dib-Hajj (S)

Center for Neuroscience & Regeneration Research, VA Connecticut Healthcare System, West Haven, CT, USA.
Department of Neurology; Yale University, New Haven, CT, USA.

Stephen G Waxman (SG)

Center for Neuroscience & Regeneration Research, VA Connecticut Healthcare System, West Haven, CT, USA.
Department of Neurology; Yale University, New Haven, CT, USA.

Fred G Barker (FG)

Harvard Medical School, Boston, MA, USA.
Cancer Center, Massachusetts General Hospital, Boston, MA, USA.
Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.

Seth L Alper (SL)

Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA.

Mohamed Chahine (M)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Department of Medicine, Université Laval, Québec, QC, Canada.

Shozeb Haider (S)

University College London, School of Pharmacy, London, England.

Yves De Koninck (Y)

CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Department of Psychiatry and Neuroscience, Université Laval, Québec, QC, Canada.

Richard P Lifton (RP)

Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.

Kristopher T Kahle (KT)

Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Department of Pediatrics, Yale School of Medicine, New Haven, CT, USA.
Department of Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT, USA.

Classifications MeSH