Publications:

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Editorial: Common and distinct mechanisms of migraine and stroke.

Frontiers In Cellular Neuroscience

Giniatullin, Rashid R; Khazipov, Roustem R; van den Maagdenberg, Arn M J M AMJM; Jolkkonen, Jukka J

Publication Date: 2023

Variant appearance in text: SCN1A: L263V

PubMed Link: 36993935

Variant Present in the following documents:

• fncel-17-1171836.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: L263V

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: 787C>G

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Ion Channel Dysfunction and Neuroinflammation in Migraine and Depression.

Frontiers In Pharmacology

Eren-Koçak, Emine E; Dalkara, Turgay T

Publication Date: 2021

Variant appearance in text: SCN1A: L263V

PubMed Link: 34858192

Variant Present in the following documents:

• Main text
• fphar-12-777607.pdf

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Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.

The Journal Of Clinical Investigation

Auffenberg, Eva E; Hedrich, Ulrike Bs UB; Barbieri, Raffaella R; Miely, Daniela D; Groschup, Bernhard B; Wuttke, Thomas V TV; Vogel, Niklas N; Lührs, Philipp P; Zanardi, Ilaria I; Bertelli, Sara S; Spielmann, Nadine N; Gailus-Durner, Valerie V; Fuchs, Helmut H; Hrabě de Angelis, Martin M; Pusch, Michael M; Dichgans, Martin M; Lerche, Holger H; Gavazzo, Paola P; Plesnila, Nikolaus N; Freilinger, Tobias T

Publication Date: 2021-11-01

Variant appearance in text: SCN1A: L263V

PubMed Link: 34546973

Variant Present in the following documents:

• Main text
• jci-131-142202.pdf

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Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

The Journal Of Clinical Investigation

Chever, Oana O; Zerimech, Sarah S; Scalmani, Paolo P; Lemaire, Louisiane L; Pizzamiglio, Lara L; Loucif, Alexandre A; Ayrault, Marion M; Krupa, Martin M; Desroches, Mathieu M; Duprat, Fabrice F; Léna, Isabelle I; Cestèle, Sandrine S; Mantegazza, Massimo M

Publication Date: 2021-11-01

Variant appearance in text: SCN1A: L263V

PubMed Link: 34491914

Variant Present in the following documents:

• Main text
• jci-131-142203.pdf

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Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.

Plos Computational Biology

Lemaire, Louisiane L; Desroches, Mathieu M; Krupa, Martin M; Pizzamiglio, Lara L; Scalmani, Paolo P; Mantegazza, Massimo M

Publication Date: 2021-07

Variant appearance in text: SCN1A: L263V

PubMed Link: 34314446

Variant Present in the following documents:

• Main text

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Deciphering in silico the Role of Mutated Na 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.

Frontiers In Cellular Neuroscience

Suleimanova, Alina A; Talanov, Max M; van den Maagdenberg, Arn M J M AMJM; Giniatullin, Rashid R

Publication Date: 2021

Variant appearance in text: Nav1.1: L263V

PubMed Link: 34135733

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf

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Genetics of migraine aura: an update.

The Journal Of Headache And Pain

de Boer, Irene I; Terwindt, Gisela M GM; van den Maagdenberg, Arn M J M AMJM

Publication Date: 2020-06-05

Variant appearance in text: SCN1A: L263V

PubMed Link: 32503413

Variant Present in the following documents:

• Main text
• 10194_2020_Article_1125.pdf

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First FHM3 mouse model shows spontaneous cortical spreading depolarizations.

Annals Of Clinical And Translational Neurology

Jansen, Nico A NA; Dehghani, Anisa A; Linssen, Margot M L MML; Breukel, Cor C; Tolner, Else A EA; van den Maagdenberg, Arn M J M AMJM

Publication Date: 2020-01

Variant appearance in text: SCN1A: L263V

PubMed Link: 31880072

Variant Present in the following documents:

• Main text
• ACN3-7-132.pdf

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Familial Hemiplegic Migraine Type 3 (FHM3) With an SCN1A Mutation in a Chinese Family: A Case Report.

Frontiers In Neurology

Shao, Na N; Zhang, Haining H; Wang, Xue X; Zhang, Wuqiong W; Yu, Miaomiao M; Meng, Hongmei H

Publication Date: 2018

Variant appearance in text: SCN1A: 787C>G

PubMed Link: 30498473

Variant Present in the following documents:

• Main text
• fneur-09-00976.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: L263V

PubMed Link: 30258939

Variant Present in the following documents:

• Main text
• main.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: 787C>G; Leu263Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: Nav1.1: L263V

PubMed Link: 28479855

Variant Present in the following documents:

• Main text
• ndt-13-1175.pdf

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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: L263V

PubMed Link: 26763045

Variant Present in the following documents:

• 10.1177_0333102415608360.pdf

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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: L263V

PubMed Link: 26236192

Variant Present in the following documents:

• Main text
• fncel-09-00259.pdf

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Headache, epilepsy and photosensitivity: how are they connected?

The Journal Of Headache And Pain

Kasteleijn-Nolst Trenité, Dorothée G A DG; Verrotti, Alberto A; Di Fonzo, Alessia A; Cantonetti, Laura L; Bruschi, Raffaella R; Chiarelli, Francesco F; Villa, Maria Pia MP; Parisi, Pasquale P

Publication Date: 2010-12

Variant appearance in text: SCN1A: L263V

PubMed Link: 20963464

Variant Present in the following documents:

• Main text
• 10194_2010_Article_229.pdf

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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: L263V

PubMed Link: 20735403

Variant Present in the following documents:

• Main text

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Subtype-selective targeting of voltage-gated sodium channels.

British Journal Of Pharmacology

England, Steve S; de Groot, Marcel J MJ

Publication Date: 2009-11

Variant appearance in text: SCN1A: L263V

PubMed Link: 19845672

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: L263V

PubMed Link: 18621678

Variant Present in the following documents:

• Main text

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