Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia.
| Autor: | 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., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Allocco A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., 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., Sheth AH; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Panchagnula S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Castonguay A; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Lorenzo LÉ; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Islam B; University College London, School of Pharmacy, London, England., Brindle G; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Bachand K; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Hu J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Sularz A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Gaillard J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., 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., Dunbar A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Kiziltug E; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Furey CG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Conine S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Duy PQ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Loring E; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Zhou G; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA., Liu W; Program of Computational Biology and Bioinformatics, Yale University, New Haven, CT, USA., Li X; School of Data Science, City University of Hong Kong, Hong Kong, China., 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., Mane S; Yale Center for Genome Analysis, West Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, West Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, West Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, West Haven, CT, USA., Sekula RF Jr; Department of Neurological Surgery, University of Pittsburgh School of Medicine and University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Simard JM; Department of Neurosurgery, University of Maryland School of Medicine, Baltimore, MD, USA., Eskandar EN; Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, New York., Gottschalk C; Headache Medicine, Department of Neurology, Yale School of Medicine, New Haven, CT, USA., Moliterno J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Günel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Gerrard JL; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., 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., Waxman SG; Center for Neuroscience & Regeneration Research, VA Connecticut Healthcare System, West Haven, CT, USA.; Department of Neurology; Yale University, New Haven, CT, USA., Barker FG 2nd; Harvard Medical School, Boston, MA, USA.; Cancer Center, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurosurgery, Massachusetts General Hospital, Boston, MA, USA., 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., Chahine M; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.; Department of Medicine, Université Laval, Québec, QC, Canada., Haider S; University College London, School of Pharmacy, London, England., De Koninck Y; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada.; Department of Psychiatry and Neuroscience, Université Laval, Québec, QC, Canada., 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., 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. |
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| Jazyk: | angličtina |
| Zdroj: | IScience [iScience] 2020 Sep 11; Vol. 23 (10), pp. 101552. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020). |
| DOI: | 10.1016/j.isci.2020.101552 |
| Abstrakt: | 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 de novo mutation (p.Cys188Trp) in the GABA Competing Interests: The authors declare no competing interests. (© 2020 The Authors.) |
| Databáze: | MEDLINE |
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