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: R865G

PubMed Link: 35854005

Variant Present in the following documents:

• 41537_2022_255_MOESM1_ESM.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: R865G

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Sodium channels.

Brain And Neuroscience Advances

Wood, John N JN; Iseppon, Federico F

Publication Date: 2018

Variant appearance in text: SCN1A: R865G

PubMed Link: 32166153

Variant Present in the following documents:

• Main text
• 10.1177_2398212818810684.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: R865G

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: R865G

PubMed Link: 30446648

Variant Present in the following documents:

• Main text
• 41398_2017_7_MOESM1_ESM.pdf

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Differential roles of NaV1.2 and NaV1.6 in regulating neuronal excitability at febrile temperature and distinct contributions to febrile seizures.

Scientific Reports

Ye, Mingyu M; Yang, Jun J; Tian, Cuiping C; Zhu, Qiyu Q; Yin, Luping L; Jiang, Shan S; Yang, Mingpo M; Shu, Yousheng Y

Publication Date: 2018-01-15

Variant appearance in text: SMEI: R865G

PubMed Link: 29335582

Variant Present in the following documents:

• Main text
• 41598_2017_Article_17344.pdf

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: SCN1A: 2593C>G; Arg865Gly

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: R865G

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

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Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

The Journal Of General Physiology

Volkers, Linda L; Kahlig, Kristopher M KM; Das, Joost H G JH; van Kempen, Marjan J A MJ; Lindhout, Dick D; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2013-12

Variant appearance in text: Nav1.1: R865G

PubMed Link: 24277604

Variant Present in the following documents:

• Main text
• JGP_201311042.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: R865G

PubMed Link: 22961543

Variant Present in the following documents:

• Main text
• aws225.pdf

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Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

The European Journal Of Neuroscience

Volkers, Linda L; Kahlig, Kristopher M KM; Verbeek, Nienke E NE; Das, Joost H G JH; van Kempen, Marjan J A MJ; Stroink, Hans H; Augustijn, Paul P; van Nieuwenhuizen, Onno O; Lindhout, Dick D; George, Alfred L AL; Koeleman, Bobby P C BP; Rook, Martin B MB

Publication Date: 2011-10

Variant appearance in text: SCN1A: R865G

PubMed Link: 21864321

Variant Present in the following documents:

• Main text

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