Publications:

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Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN2A: L1563V

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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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: 4687C>G; Leu1563Val

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: L1563V

PubMed Link: 35637276

Variant Present in the following documents:

• Main text
• 42003_2022_3454_MOESM5_ESM.xlsx, sheet 1
• 42003_2022_3454_MOESM2_ESM.pdf
• 42003_2022_3454_MOESM4_ESM.xlsx, sheet 1
• 42003_2022_Article_3454.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: SCN2A: L1563V

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: L1563V

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: L1563V

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: L1563V

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

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The neonatal SCN2A mutant channel mimics adult channel properties.

The Journal Of General Physiology

Muller, Grace K GK

Publication Date: 2020-05-04

Variant appearance in text: SCN2A: L1563V

PubMed Link: 32291436

Variant Present in the following documents:

• Main text
• JGP_201912468.pdf

View BVdb publication page

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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: L1563V

PubMed Link: 31995133

Variant Present in the following documents:

• Main text
• JGP_201912442.pdf

View BVdb publication page

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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes.

Molecular Medicine (Cambridge, Mass.)

Begemann, Anaïs A; Acuña, Mario A MA; Zweier, Markus M; Vincent, Marie M; Steindl, Katharina K; Bachmann-Gagescu, Ruxandra R; Hackenberg, Annette A; Abela, Lucia L; Plecko, Barbara B; Kroell-Seger, Judith J; Baumer, Alessandra A; Yamakawa, Kazuhiro K; Inoue, Yushi Y; Asadollahi, Reza R; Sticht, Heinrich H; Zeilhofer, Hanns Ulrich HU; Rauch, Anita A

Publication Date: 2019-02-27

Variant appearance in text: SCN2A: 4687C>G; rs121917750

PubMed Link: 30813884

Variant Present in the following documents:

• Main text
• 10020_2019_Article_73.pdf

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Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy.

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

Berecki, Géza G; Howell, Katherine B KB; Deerasooriya, Yadeesha H YH; Cilio, Maria Roberta MR; Oliva, Megan K MK; Kaplan, David D; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Petrou, Steven S

Publication Date: 2018-06-12

Variant appearance in text: SCN2A: L1563V

PubMed Link: 29844171

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L1563V

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: 4687C>G; Leu1563Val

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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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: SCN2A: 4687C>G; L1563V

PubMed Link: 28717674

Variant Present in the following documents:

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

View BVdb publication page

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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: L1563V

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures.

Biological Psychiatry

Ben-Shalom, Roy R; Keeshen, Caroline M CM; Berrios, Kiara N KN; An, Joon Y JY; Sanders, Stephan J SJ; Bender, Kevin J KJ

Publication Date: 2017-08-01

Variant appearance in text: SCN2A: L1563V

PubMed Link: 28256214

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: L1563V

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.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: SCN2A: L1563V

PubMed Link: 26236192

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: L1563V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Tracks through the genome to physiological events.

Experimental Physiology

Lipscombe, Diane D; Pan, Jen Q JQ; Schorge, Stephanie S

Publication Date: 2015-12

Variant appearance in text: SCN2A: L1563V

PubMed Link: 26053180

Variant Present in the following documents:

• Main text
• EPH-100-1429.pdf

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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: L1563V

PubMed Link: 23216576

Variant Present in the following documents:

• Main text

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Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

Epilepsia

Misra, Sunita N SN; Kahlig, Kristopher M KM; George, Alfred L AL

Publication Date: 2008-09

Variant appearance in text: SCN2A: L1563V

PubMed Link: 18479388

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Scalmani, Paolo P; Rusconi, Raffaella R; Armatura, Elena E; Zara, Federico F; Avanzini, Giuliano G; Franceschetti, Silvana S; Mantegazza, Massimo M

Publication Date: 2006-10-04

Variant appearance in text: SCN2A: L1563V

PubMed Link: 17021166

Variant Present in the following documents:

• Main text

View BVdb publication page

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