ArticleiScience2020
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.
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Article in iScience, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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22citing papers in PubMed, 2 pooled it
4.8field-weighted citation impact, top 4% of its field
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- A multi-ancestry genetic study of pain intensity in 598,339 veterans.Nature medicine · 2024Pooled it
- Trigeminal neuralgia and genetics: A systematic review.Molecular painPooled it
- TWIK-1 plays distinct roles in spinal and peripheral sensory circuits controlling mechanical sensitivity and neuropathic hypersensitivity.Signal transduction and targeted therapy · 2026Article
- Trigeminal neuralgia: from clinical challenges to molecular insights.The journal of headache and pain · 2026Review
- DNA hypomethylation at specific CG-sites within TRAK1 is linked to the neurocognitive profile in Klinefelter syndrome.Molecular psychiatry · 2026Article
- Functional expression of the T-type Cav3.2 calcium channel in female and male human dorsal root ganglion neurons.Brain : a journal of neurology · 2026Article
- K2P channels as emerging therapeutic targets for pain: insights from functional studies and transcriptomic analyses.Frontiers in pharmacology · 2026Review
- Cerebellar neurocan gene expression is a common pathogenic factor of trigeminal neuralgia and depression.The journal of headache and pain · 2025Article
- Emerging Psychotropic Drug for the Treatment of Trigeminal Pain: Salvinorin A.Pharmaceuticals (Basel, Switzerland) · 2024Review
- γ1 GABAThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Genomic Validation in the UK Biobank Cohort Suggests a Role of C8B and MFG-E8 in the Pathogenesis of Trigeminal Neuralgia.Journal of molecular neuroscience : MN · 2024Article
- [Additional experience with medicinal treatment of trigeminal nerve pain].Schmerz (Berlin, Germany) · 2024Article
- Role of HDAC5 Epigenetics in Chronic Craniofacial Neuropathic Pain.International journal of molecular sciences · 2024Review
- Trigeminal neuralgia.Nature reviews. Disease primers · 2024Review
- Role ofFrontiers in molecular neuroscience · 2024Article
- Electrophysiological characterization of a CaPflugers Archiv : European journal of physiology · 2023Article
- MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response.The journal of headache and pain · 2023Article
- Electrophysiological and computational analysis of CaMolecular brain · 2022Article
- Central and peripheral contributions of T-type calcium channels in pain.Molecular brain · 2022Review
- Mechanistic contribution of CaV3.2 calcium channels to trigeminal neuralgia pathophysiology not clarified.F1000Research · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
49 authors at 13 institutions in 5 countries.
Weilai DongDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Sheng Chih JinDepartment of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
August AlloccoDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Xue ZengDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Amar H ShethDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Shreyas PanchagnulaDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Annie CastonguayCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Louis-Étienne LorenzoCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Barira IslamUniversity College London, School of Pharmacy, London, England.
Geneviève BrindleCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Karine BachandCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Jamie HuDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Agata SularzDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Jonathan GaillardDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Jungmin ChoiDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Ashley DunbarDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Carol Nelson-WilliamsDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Emre KiziltugDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Charuta Gavankar FureyDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Sierra ConineDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Phan Q DuyDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Adam J KundishoraDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Erin LoringDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Boyang LiDepartment of Biostatistics, Yale School of Public Health, New Haven, CT, USA.
Qiongshi LuDepartment of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA.
Geyu ZhouProgram of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Wei LiuProgram of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA.
Xinyue LiSchool of Data Science, City University of Hong Kong, Hong Kong, China.
Michael C SierantDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Shrikant ManeYale Center for Genome Analysis, West Haven, CT, USA.
Christopher CastaldiYale Center for Genome Analysis, West Haven, CT, USA.
Francesc López-GiráldezYale Center for Genome Analysis, West Haven, CT, USA.
James R KnightYale Center for Genome Analysis, West Haven, CT, USA.
Raymond F SekulaDepartment of Neurological Surgery, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
J Marc SimardDepartment of Neurosurgery, University of Maryland School of Medicine, Baltimore, MD, USA.
Emad N EskandarDepartment of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, New York.
Christopher GottschalkHeadache Medicine, Department of Neurology, Yale School of Medicine, New Haven, CT, USA.
Jennifer MoliternoDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Murat GünelDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Jason L GerrardDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Sulayman Dib-HajjCenter for Neuroscience & Regeneration Research, VA Connecticut Healthcare System, West Haven, CT, USA.
Stephen G WaxmanCenter for Neuroscience & Regeneration Research, VA Connecticut Healthcare System, West Haven, CT, USA.
Fred G BarkerHarvard Medical School, Boston, MA, USA.
Seth L AlperDivision of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, MA, USA.
Mohamed ChahineCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Shozeb HaiderUniversity College London, School of Pharmacy, London, England.
Yves De KoninckCERVO Brain Research Centre, Université Laval, Québec, QC, Canada.
Richard P LiftonDepartment of Genetics, Yale School of Medicine, New Haven, CT, USA.
Kristopher T KahleDepartment of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Yale University · USUniversité Laval · CAYale Cancer Center · USUniversity College London · GBAlbert Einstein College of Medicine · USBeth Israel Deaconess Medical Center · USCity University of Hong Kong · HKHarvard University · USKorea University · KRUniversity of Maryland, Baltimore · USUniversity of Pittsburgh Medical Center · USUniversity of Wisconsin–Madison · USWashington University in St. Louis · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9MYale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0MGENETICS AND GENOMICS OF HUMAN DISEASET32HD007149 · NICHD · YALE UNIVERSITY · PI James P Noonan · 1985 to 2026
$8.2MNIA Short Term Research Training: Students in Health Professional SchoolsT35AG049685 · NIA · YALE UNIVERSITY · PI Sarwat I Chaudhry, Terri R. Fried · 2016 to 2026
$804kIntegrative Genomic Analysis of Congenital Heart DiseaseR00HL143036 · NHLBI · WASHINGTON UNIVERSITY · PI JIN, SHENG CHIH · 2020 to 2022
$730kIntegrative Genomic Analysis of Congenital Heart DiseaseK99HL143036 · NHLBI · ROCKEFELLER UNIVERSITY · PI JIN, SHENG CHIH · 2019 to 2019
$178kNCATS NIH HHS UL1 TR001863NHGRI NIH HHS U54 HG006504NHLBI NIH HHS K99 HL143036NHLBI NIH HHS R00 HL143036NIA NIH HHS T35 AG049685NICHD NIH HHS T32 HD007149NIGMS NIH HHS T32 GM007205
Abstract
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
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.