Publications:

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Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.

Life (Basel, Switzerland)

Barbieri, Raffaella R; Nizzari, Mario M; Zanardi, Ilaria I; Pusch, Michael M; Gavazzo, Paola P

Publication Date: 2023-05-16

Variant appearance in text: Nav1.1: Q1489H

PubMed Link: 37240836

Variant Present in the following documents:

• Main text
• life-13-01191.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: Q1489H

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: 4467G>C

PubMed Link: 35002916

Variant Present in the following documents:

• Main text

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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: Q1489H

PubMed Link: 31730442

Variant Present in the following documents:

• Main text
• 10194_2019_Article_1056.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: Q1489H

PubMed Link: 30258939

Variant Present in the following documents:

• Main text
• main.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: Q1489H

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: SCN1A: Q1489H

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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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: Q1489H

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: Q1489H; rs121918633

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: Q1489H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation.

Frontiers In Pharmacology

Moreau, Adrien A; Krahn, Andrew D AD; Gosselin-Badaroudine, Pascal P; Klein, George J GJ; Christé, Georges G; Vincent, Yohann Y; Boutjdir, Mohamed M; Chahine, Mohamed M

Publication Date: 2013

Variant appearance in text: SCN1A: Q1489H

PubMed Link: 24098284

Variant Present in the following documents:

• Main text

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Migraine headache: a review of the molecular genetics of a common disorder.

The Journal Of Headache And Pain

Di Lorenzo, Cherubino C; Grieco, Gaetano S GS; Santorelli, Filippo M FM

Publication Date: 2012-10

Variant appearance in text: SCN1A: Q1489H

PubMed Link: 22940869

Variant Present in the following documents:

• Main text
• 10194_2012_Article_478.pdf

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