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

Weilai Dong; Sheng Chih Jin; August Allocco; Xue Zeng; Amar H. Sheth; Shreyas Panchagnula; Annie Castonguay; Louis Étienne Lorenzo; Barira Islam; Geneviève Brindle; Karine Bachand; Jamie Hu; Agata Sularz; Jonathan Gaillard; Jungmin Choi; Ashley Dunbar; Carol Nelson-Williams; Emre Kiziltug; Charuta Gavankar Furey; Sierra Conine; Phan Q. Duy; Adam J. Kundishora; Erin Loring; Boyang Li; Qiongshi Lu; Geyu Zhou; Wei Liu; Xinyue Li; Michael C. Sierant; Shrikant Mane; Christopher Castaldi; Francesc López-Giráldez; James R. Knight; Raymond F. Sekula; J. Marc Simard; Emad N. Eskandar; Christopher Gottschalk; Jennifer Moliterno; Murat Günel; Jason L. Gerrard; Sulayman Dib-Hajj; Stephen G. Waxman; Fred G. Barker; Seth L. Alper; Mohamed Chahine; Shozeb Haider; Yves De Koninck; Richard P. Lifton; Kristopher T. Kahle

doi:10.1016/j.isci.2020.101552

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

Weilai Dong, Sheng Chih Jin, August Allocco, Xue Zeng, Amar H. Sheth, Shreyas Panchagnula, Annie Castonguay, Louis Étienne Lorenzo, Barira Islam, Geneviève Brindle, Karine Bachand, Jamie Hu, Agata Sularz, Jonathan Gaillard, Jungmin Choi, Ashley Dunbar, Carol Nelson-Williams, Emre Kiziltug, Charuta Gavankar Furey, Sierra ConinePhan Q. Duy, Adam J. Kundishora, Erin Loring, Boyang Li, Qiongshi Lu, Geyu Zhou, Wei Liu, Xinyue Li, Michael C. Sierant, Shrikant Mane, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Raymond F. Sekula, J. Marc Simard, Emad N. Eskandar, Christopher Gottschalk, Jennifer Moliterno, Murat Günel, Jason L. Gerrard, Sulayman Dib-Hajj, Stephen G. Waxman, Fred G. Barker, Seth L. Alper, Mohamed Chahine, Shozeb Haider, Yves De Koninck, Richard P. Lifton, Kristopher T. Kahle

Department of Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

17 Citations (Scopus)

Abstract

Neuroscience;

Original language	English
Article number	101552
Journal	iScience
Volume	23
Issue number	10
DOIs	https://doi.org/10.1016/j.isci.2020.101552
Publication status	Published - 2020 Oct 23

Keywords

Genomics
Neuroscience
Structural Biology

ASJC Scopus subject areas

General

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10.1016/j.isci.2020.101552

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Dong, W., Jin, S. C., Allocco, A., Zeng, X., Sheth, A. H., Panchagnula, S., Castonguay, A., Lorenzo, L. É., Islam, B., Brindle, G., Bachand, K., Hu, J., Sularz, A., Gaillard, J., Choi, J., Dunbar, A., Nelson-Williams, C., Kiziltug, E., Furey, C. G., ... Kahle, K. T. (2020). Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia. iScience, 23(10), Article 101552. https://doi.org/10.1016/j.isci.2020.101552

Dong, W, Jin, SC, Allocco, A, Zeng, X, Sheth, AH, Panchagnula, S, Castonguay, A, Lorenzo, LÉ, Islam, B, Brindle, G, Bachand, K, Hu, J, Sularz, A, Gaillard, J, Choi, J, Dunbar, A, Nelson-Williams, C, Kiziltug, E, Furey, CG, Conine, S, Duy, PQ, Kundishora, AJ, Loring, E, Li, B, Lu, Q, Zhou, G, Liu, W, Li, X, Sierant, MC, Mane, S, Castaldi, C, López-Giráldez, F, Knight, JR, Sekula, RF, Simard, JM, Eskandar, EN, Gottschalk, C, Moliterno, J, Günel, M, Gerrard, JL, Dib-Hajj, S, Waxman, SG, Barker, FG, Alper, SL, Chahine, M, Haider, S, De Koninck, Y, Lifton, RP & Kahle, KT 2020, 'Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia', iScience, vol. 23, no. 10, 101552. https://doi.org/10.1016/j.isci.2020.101552

@article{3f503f4b9a194a15b51d12f665c70dc9,

title = "Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia",

abstract = "Neuroscience;",

keywords = "Genomics, Neuroscience, Structural Biology",

author = "Weilai Dong and Jin, {Sheng Chih} and August Allocco and Xue Zeng and Sheth, {Amar H.} and Shreyas Panchagnula and Annie Castonguay and Lorenzo, {Louis {\'E}tienne} and Barira Islam and Genevi{\`e}ve Brindle and Karine Bachand and Jamie Hu and Agata Sularz and Jonathan Gaillard and Jungmin Choi and Ashley Dunbar and Carol Nelson-Williams and Emre Kiziltug and Furey, {Charuta Gavankar} and Sierra Conine and Duy, {Phan Q.} and Kundishora, {Adam J.} and Erin Loring and Boyang Li and Qiongshi Lu and Geyu Zhou and Wei Liu and Xinyue Li and Sierant, {Michael C.} and Shrikant Mane and Christopher Castaldi and Francesc L{\'o}pez-Gir{\'a}ldez and Knight, {James R.} and Sekula, {Raymond F.} and Simard, {J. Marc} and Eskandar, {Emad N.} and Christopher Gottschalk and Jennifer Moliterno and Murat G{\"u}nel and Gerrard, {Jason L.} and Sulayman Dib-Hajj and Waxman, {Stephen G.} and Barker, {Fred G.} and Alper, {Seth L.} and Mohamed Chahine and Shozeb Haider and {De Koninck}, Yves and Lifton, {Richard P.} and Kahle, {Kristopher T.}",

note = "Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics (5U54HG006504) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant (FDN389050) to Y.D.K. and CIHR grant (MOP-111072 and MOP-130373) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship (19PRE34380842). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship (18POST34060008), and the K99/R00 Pathway to Independence Award (K99HL143036 and R00HL143036-02). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Study design and conceptualization: W.D. R.P.L. and K.T.K. Cohort ascertainment, recruitment, and phenotypic characterization: A.A. S.P. J.H. A.S. J.G. A.D. C.G.F. and S.C. Exome sequencing production and validation: S.M. C.C. F.L.-G. and J.R.K. WES analysis: W.D. S.C.J. X.Z. A.H.S. J.C. and M.C.S. Statistical analysis: W.D. S.C.J. A.H.S. S.P. B.L. Q.L. G.Z. W.L. and X.L. Mouse experiments: A.C. L.-E.L. G.B. K.B. and Y.D.K. Sanger sequencing validation: C.N.-W. Biophysical simulation: B.I. and S.H. Resources: R.P.L. and K.T.K. Writing and review of manuscript: W.D. S.C.J. A.A. S.P. A.H.S. E.K. P.Q.D. A.J.K. R.F.S. J.M.S. E.N.E. C.G. J.M. M.G. J.L.G. S.D.-H. S.G.W. F.G.B. S.L.A. M.C. R.P.L. and K.T.K. Project administration: W.D. E.L. Y.D.K. R.P.L. and K.T.K. Funding acquisition and supervision: R.P.L. and K.T.K. The authors declare no competing interests. Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics ( 5U54HG006504 ) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant ( FDN389050 ) to Y.D.K. and CIHR grant ( MOP-111072 and MOP-130373 ) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship ( 19PRE34380842 ). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship ( 18POST34060008 ), and the K99/R00 Pathway to Independence Award ( K99HL143036 and R00HL143036-02 ). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Publisher Copyright: {\textcopyright} 2020 The Authors",

year = "2020",

month = oct,

day = "23",

doi = "10.1016/j.isci.2020.101552",

language = "English",

volume = "23",

journal = "iScience",

issn = "2589-0042",

publisher = "Elsevier Inc.",

number = "10",

}

TY - JOUR

T1 - Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

AU - Dong, Weilai

AU - Jin, Sheng Chih

AU - Allocco, August

AU - Zeng, Xue

AU - Sheth, Amar H.

AU - Panchagnula, Shreyas

AU - Castonguay, Annie

AU - Lorenzo, Louis Étienne

AU - Islam, Barira

AU - Brindle, Geneviève

AU - Bachand, Karine

AU - Hu, Jamie

AU - Sularz, Agata

AU - Gaillard, Jonathan

AU - Choi, Jungmin

AU - Dunbar, Ashley

AU - Nelson-Williams, Carol

AU - Kiziltug, Emre

AU - Furey, Charuta Gavankar

AU - Conine, Sierra

AU - Duy, Phan Q.

AU - Kundishora, Adam J.

AU - Loring, Erin

AU - Li, Boyang

AU - Lu, Qiongshi

AU - Zhou, Geyu

AU - Liu, Wei

AU - Li, Xinyue

AU - Sierant, Michael C.

AU - Mane, Shrikant

AU - Castaldi, Christopher

AU - López-Giráldez, Francesc

AU - Knight, James R.

AU - Sekula, Raymond F.

AU - Simard, J. Marc

AU - Eskandar, Emad N.

AU - Gottschalk, Christopher

AU - Moliterno, Jennifer

AU - Günel, Murat

AU - Gerrard, Jason L.

AU - Dib-Hajj, Sulayman

AU - Waxman, Stephen G.

AU - Barker, Fred G.

AU - Alper, Seth L.

AU - Chahine, Mohamed

AU - Haider, Shozeb

AU - De Koninck, Yves

AU - Lifton, Richard P.

AU - Kahle, Kristopher T.

N1 - Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics (5U54HG006504) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant (FDN389050) to Y.D.K. and CIHR grant (MOP-111072 and MOP-130373) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship (19PRE34380842). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship (18POST34060008), and the K99/R00 Pathway to Independence Award (K99HL143036 and R00HL143036-02). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Study design and conceptualization: W.D. R.P.L. and K.T.K. Cohort ascertainment, recruitment, and phenotypic characterization: A.A. S.P. J.H. A.S. J.G. A.D. C.G.F. and S.C. Exome sequencing production and validation: S.M. C.C. F.L.-G. and J.R.K. WES analysis: W.D. S.C.J. X.Z. A.H.S. J.C. and M.C.S. Statistical analysis: W.D. S.C.J. A.H.S. S.P. B.L. Q.L. G.Z. W.L. and X.L. Mouse experiments: A.C. L.-E.L. G.B. K.B. and Y.D.K. Sanger sequencing validation: C.N.-W. Biophysical simulation: B.I. and S.H. Resources: R.P.L. and K.T.K. Writing and review of manuscript: W.D. S.C.J. A.A. S.P. A.H.S. E.K. P.Q.D. A.J.K. R.F.S. J.M.S. E.N.E. C.G. J.M. M.G. J.L.G. S.D.-H. S.G.W. F.G.B. S.L.A. M.C. R.P.L. and K.T.K. Project administration: W.D. E.L. Y.D.K. R.P.L. and K.T.K. Funding acquisition and supervision: R.P.L. and K.T.K. The authors declare no competing interests. Funding Information: We thank the patients and families who participated in this research. We acknowledge Dr. Hongyu Zhao from the Department of Biostatistics, Yale School of Public Health for his mentorship on the statistical analysis and providing access to the UK Biobank Resource under Application Number 29900. We acknowledge support from the Yale-NIH Center for Mendelian Genomics ( 5U54HG006504 ) and an NIH NRCDP award to K.T.K. We acknowledge the Canadian Institute of Health Research (CIHR) Foundation grant ( FDN389050 ) to Y.D.K. and CIHR grant ( MOP-111072 and MOP-130373 ) to M.C. We acknowledge Dr. Kaya Bilguvar for his help on exome sequencing for the samples at Yale-NIH Center for Mendelian Genomics. W.D. was supported by American Heart Association Predoctoral Fellowship ( 19PRE34380842 ). S.C.J. was supported by the James Hudson Brown-Alexander Brown Coxe Postdoctoral Fellowship, the American Heart Association Postdoctoral Fellowship ( 18POST34060008 ), and the K99/R00 Pathway to Independence Award ( K99HL143036 and R00HL143036-02 ). Y.D.K. was supported by a Canada Research Chair in Chronic Pain and Related Brain Disorders. Publisher Copyright: © 2020 The Authors

PY - 2020/10/23

Y1 - 2020/10/23

N2 - Neuroscience;

AB - Neuroscience;

KW - Genomics

KW - Neuroscience

KW - Structural Biology

UR - http://www.scopus.com/inward/record.url?scp=85092127152&partnerID=8YFLogxK

U2 - 10.1016/j.isci.2020.101552

DO - 10.1016/j.isci.2020.101552

M3 - Article

AN - SCOPUS:85092127152

SN - 2589-0042

VL - 23

JO - iScience

JF - iScience

IS - 10

M1 - 101552

ER -

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

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