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
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
101552Subventions
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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