Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN2A: 754A>G; Met252Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Communications Biology

Berecki, Géza G; Howell, Katherine B KB; Heighway, Jacqueline J; Olivier, Nelson N; Rodda, Jill J; Overmars, Isabella I; Vlaskamp, Danique R M DRM; Ware, Tyson L TL; Ardern-Holmes, Simone S; Lesca, Gaetan G; Alber, Michael M; Veggiotti, Pierangelo P; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Wolff, Markus M; Petrou, Steven S

Publication Date: 2022-05-30

Variant appearance in text: SCN2A: M252V

PubMed Link: 35637276

Variant Present in the following documents:

• Main text
• 42003_2022_3454_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_3454_MOESM2_ESM.pdf
• 42003_2022_3454_MOESM5_ESM.xlsx, sheet 1
• 42003_2022_Article_3454.pdf

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Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.

Genome Medicine

Liang, Lindsay L; Fazel Darbandi, Siavash S; Pochareddy, Sirisha S; Gulden, Forrest O FO; Gilson, Michael C MC; Sheppard, Brooke K BK; Sahagun, Atehsa A; An, Joon-Yong JY; Werling, Donna M DM; Rubenstein, John L R JLR; Sestan, Nenad N; Bender, Kevin J KJ; Sanders, Stephan J SJ

Publication Date: 2021-08-23

Variant appearance in text: SCN2A: M252V

PubMed Link: 34425903

Variant Present in the following documents:

• Main text
• 13073_2021_Article_949.pdf

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Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Crawford, Katherine K; Xian, Julie J; Helbig, Katherine L KL; Galer, Peter D PD; Parthasarathy, Shridhar S; Lewis-Smith, David D; Kaufman, Michael C MC; Fitch, Eryn E; Ganesan, Shiva S; O'Brien, Margaret M; Codoni, Veronica V; Ellis, Colin A CA; Conway, Laura J LJ; Taylor, Deanne D; Krause, Roland R; Helbig, Ingo I

Publication Date: 2021-07

Variant appearance in text: SCN2A: M252V

PubMed Link: 33731876

Variant Present in the following documents:

• 41436_2021_1120_MOESM1_ESM.pdf

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Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Frontiers In Pharmacology

Menezes, Luis Felipe Santos LFS; Sabiá Júnior, Elias Ferreira EF; Tibery, Diogo Vieira DV; Carneiro, Lilian Dos Anjos LDA; Schwartz, Elisabeth Ferroni EF

Publication Date: 2020

Variant appearance in text: SCN2A: M252V

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SCN2A: 754A>G; Met252Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.

The Journal Of General Physiology

Thompson, Christopher H CH; Ben-Shalom, Roy R; Bender, Kevin J KJ; George, Alfred L AL

Publication Date: 2020-03-02

Variant appearance in text: SCN2A: M252V

PubMed Link: 31995133

Variant Present in the following documents:

• Main text
• JGP_201912442.pdf

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Progress in Understanding and Treating SCN2A-Mediated Disorders.

Trends In Neurosciences

Sanders, Stephan J SJ; Campbell, Arthur J AJ; Cottrell, Jeffrey R JR; Moller, Rikke S RS; Wagner, Florence F FF; Auldridge, Angie L AL; Bernier, Raphael A RA; Catterall, William A WA; Chung, Wendy K WK; Empfield, James R JR; George, Alfred L AL; Hipp, Joerg F JF; Khwaja, Omar O; Kiskinis, Evangelos E; Lal, Dennis D; Malhotra, Dheeraj D; Millichap, John J JJ; Otis, Thomas S TS; Petrou, Steven S; Pitt, Geoffrey G; Schust, Leah F LF; Taylor, Cora M CM; Tjernagel, Jennifer J; Spiro, John E JE; Bender, Kevin J KJ

Publication Date: 2018-07

Variant appearance in text: SCN2A: M252V

PubMed Link: 29691040

Variant Present in the following documents:

• Main text

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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: SCN2A: 754A>G; Met252Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: SCN2A: M252V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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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: Nav1.2: M252V

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.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: SCN2A: M252V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment.

Epilepsia

Vacher, Helene H; Trimmer, James S JS

Publication Date: 2012-12

Variant appearance in text: Nav1.2: M252V

PubMed Link: 23216576

Variant Present in the following documents:

• Main text

View BVdb publication page

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