Publications:

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The effect of alterations of schizophrenia-associated genes on gamma band oscillations.

Schizophrenia (Heidelberg, Germany)

Metzner, Christoph C; Mäki-Marttunen, Tuomo T; Karni, Gili G; McMahon-Cole, Hana H; Steuber, Volker V

Publication Date: 2022-04-28

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 35854005

Variant Present in the following documents:

• 41537_2022_255_MOESM1_ESM.pdf

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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Brünger, Tobias T; Feng, Tony T; Fons, Carmen C; Lehikoinen, Anni A; Panagiotakaki, Eleni E; Vintan, Mihaela-Adela MA; Symonds, Joseph J; Andrew, James J; Arzimanoglou, Alexis A; Delima, Sarah S; Gallois, Julie J; Hanrahan, Donncha D; Lesca, Gaetan G; MacLeod, Stewart S; Marjanovic, Dragan D; McTague, Amy A; Nuñez-Enamorado, Noemi N; Perez-Palma, Eduardo E; Scott Perry, M M; Pysden, Karen K; Russ-Hall, Sophie J SJ; Scheffer, Ingrid E IE; Sully, Krystal K; Syrbe, Steffen S; Vaher, Ulvi U; Velayutham, Murugan M; Vogt, Julie J; Weiss, Shelly S; Wirrell, Elaine E; Zuberi, Sameer M SM; Lal, Dennis D; Møller, Rikke S RS; Mantegazza, Massimo M; Cestèle, Sandrine S

Publication Date: 2022-11-21

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 35696452

Variant Present in the following documents:

• Main text
• awac210.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: 4465C>A

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Comorbid Bipolar Disorder and Migraine: From Mechanisms to Treatment.

Frontiers In Psychiatry

Duan, Jinfeng J; Yang, Rongmei R; Lu, Wenwen W; Zhao, Lingfei L; Hu, Shaohua S; Hu, Chenxia C

Publication Date: 2020

Variant appearance in text: SCN1A: Gln1489Lys

PubMed Link: 33505322

Variant Present in the following documents:

• Main text
• fpsyt-11-560138.pdf

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Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.

The Journal Of Headache And Pain

Barbieri, R R; Bertelli, S S; Pusch, M M; Gavazzo, P P

Publication Date: 2019-11-15

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 31730442

Variant Present in the following documents:

• Main text
• 10194_2019_Article_1056.pdf

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Computational Modeling of Genetic Contributions to Excitability and Neural Coding in Layer V Pyramidal Cells: Applications to Schizophrenia Pathology.

Frontiers In Computational Neuroscience

Mäki-Marttunen, Tuomo T; Devor, Anna A; Phillips, William A WA; Dale, Anders M AM; Andreassen, Ole A OA; Einevoll, Gaute T GT

Publication Date: 2019

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 31616272

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Pleiotropic effects of schizophrenia-associated genetic variants in neuron firing and cardiac pacemaking revealed by computational modeling.

Translational Psychiatry

Mäki-Marttunen, Tuomo T; Lines, Glenn T GT; Edwards, Andrew G AG; Tveito, Aslak A; Dale, Anders M AM; Einevoll, Gaute T GT; Andreassen, Ole A OA

Publication Date: 2017-11-17

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 30446648

Variant Present in the following documents:

• Main text
• 41398_2017_Article_7.pdf

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Epilepsy and migraine-Are they comorbidity?

Genes & Diseases

Liao, Jin J; Tian, Xin X; Wang, Hao H; Xiao, Zheng Z

Publication Date: 2018-06

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 30258939

Variant Present in the following documents:

• Main text
• main.pdf

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: SCN1A: 4465C>A; Q1489K

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 3

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The genetic relationship between epilepsy and hemiplegic migraine.

Neuropsychiatric Disease And Treatment

Huang, Yiqing Y; Xiao, Hai H; Qin, Xingyue X; Nong, Yuan Y; Zou, Donghua D; Wu, Yuan Y

Publication Date: 2017

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 28479855

Variant Present in the following documents:

• Main text
• ndt-13-1175.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: Q1489K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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Functional Effects of Schizophrenia-Linked Genetic Variants on Intrinsic Single-Neuron Excitability: A Modeling Study.

Biological Psychiatry. Cognitive Neuroscience And Neuroimaging

Mäki-Marttunen, Tuomo T; Halnes, Geir G; Devor, Anna A; Witoelar, Aree A; Bettella, Francesco F; Djurovic, Srdjan S; Wang, Yunpeng Y; Einevoll, Gaute T GT; Andreassen, Ole A OA; Dale, Anders M AM

Publication Date: 2016-01-01

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 26949748

Variant Present in the following documents:

• Main text

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Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Cephalalgia : An International Journal Of Headache

Fan, Chunxiang C; Wolking, Stefan S; Lehmann-Horn, Frank F; Hedrich, Ulrike Bs UB; Freilinger, Tobias T; Lerche, Holger H; Borck, Guntram G; Kubisch, Christian C; Jurkat-Rott, Karin K

Publication Date: 2016-11

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 26763045

Variant Present in the following documents:

• Main text
• 10.1177_0333102415608360.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: SMEI: Q1489K; rs121918628

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Prevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell disease.

Pharmacogenomics

Jhun, Ellie H EH; Yao, Yingwei Y; He, Ying Y; Mack, A Kyle AK; Wilkie, Diana J DJ; Molokie, Robert E RE; Wang, Zaijie Jim ZJ

Publication Date: 2015-11

Variant appearance in text: rs121918628

PubMed Link: 26555434

Variant Present in the following documents:

• Main text

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Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Frontiers In Cellular Neuroscience

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Manocchio, Laura L; Medoro, Alessandro A; Taglialatela, Maurizio M

Publication Date: 2015

Variant appearance in text: SMEI: Q1489K

PubMed Link: 26236192

Variant Present in the following documents:

• Main text
• fncel-09-00259.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Peripheral nerve injury is accompanied by chronic transcriptome-wide changes in the mouse prefrontal cortex.

Molecular Pain

Alvarado, Sebastian S; Tajerian, Maral M; Millecamps, Magali M; Suderman, Mathew M; Stone, Laura S LS; Szyf, Moshe M

Publication Date: 2013-04-18

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 23597049

Variant Present in the following documents:

• Main text

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Pathophysiology of migraine.

Annals Of Indian Academy Of Neurology

Goadsby, Peter J PJ

Publication Date: 2012-08

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 23024559

Variant Present in the following documents:

• Main text
• AIAN-15-15.pdf

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Neurological perspectives on voltage-gated sodium channels.

Brain : A Journal Of Neurology

Eijkelkamp, Niels N; Linley, John E JE; Baker, Mark D MD; Minett, Michael S MS; Cregg, Roman R; Werdehausen, Robert R; Rugiero, François F; Wood, John N JN

Publication Date: 2012-09

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 22961543

Variant Present in the following documents:

• Main text

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Pain as a channelopathy.

The Journal Of Clinical Investigation

Raouf, Ramin R; Quick, Kathryn K; Wood, John N JN

Publication Date: 2010-11

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 21041956

Variant Present in the following documents:

• Main text

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Ranolazine selectively blocks persistent current evoked by epilepsy-associated Naν1.1 mutations.

British Journal Of Pharmacology

Kahlig, Kristopher M KM; Lepist, Irene I; Leung, Kwan K; Rajamani, Sridharan S; George, Alfred L AL

Publication Date: 2010-11

Variant appearance in text: SMEI: Q1489K

PubMed Link: 20735403

Variant Present in the following documents:

• Main text

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Divergent sodium channel defects in familial hemiplegic migraine.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Kahlig, Kristopher M KM; Rhodes, Thomas H TH; Pusch, Michael M; Freilinger, Tobias T; Pereira-Monteiro, José M JM; Ferrari, Michel D MD; van den Maagdenberg, Arn M J M AM; Dichgans, Martin M; George, Alfred L AL

Publication Date: 2008-07-15

Variant appearance in text: SCN1A: Q1489K

PubMed Link: 18621678

Variant Present in the following documents:

• Main text

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