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: 304C>T; Arg102Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: SCN2A: 304C>T; Arg102*

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: SCN2A: 304C>T; Arg102*

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: SCN2A: 304C>T; R102X

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology

Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E

Publication Date: 2021

Variant appearance in text: SCN2A: R102X

PubMed Link: 33841294

Variant Present in the following documents:

• Main text
• fneur-12-600050.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: R102*

PubMed Link: 33731876

Variant Present in the following documents:

• Main text
• 41436_2021_Article_1120.pdf
• 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: R102X

PubMed Link: 33013363

Variant Present in the following documents:

• Main text
• fphar-11-01276.pdf

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nature Communications

Wang, Tianyun T; Hoekzema, Kendra K; Vecchio, Davide D; Wu, Huidan H; Sulovari, Arvis A; Coe, Bradley P BP; Gillentine, Madelyn A MA; Wilfert, Amy B AB; Perez-Jurado, Luis A LA; Kvarnung, Malin M; Sleyp, Yoeri Y; Earl, Rachel K RK; Rosenfeld, Jill A JA; Geisheker, Madeleine R MR; Han, Lin L; Du, Bing B; Barnett, Chris C; Thompson, Elizabeth E; Shaw, Marie M; Carroll, Renee R; Friend, Kathryn K; Catford, Rachael R; Palmer, Elizabeth E EE; Zou, Xiaobing X; Ou, Jianjun J; Li, Honghui H; Guo, Hui H; Gerdts, Jennifer J; Avola, Emanuela E; Calabrese, Giuseppe G; Elia, Maurizio M; Greco, Donatella D; Lindstrand, Anna A; Nordgren, Ann A; Anderlid, Britt-Marie BM; Vandeweyer, Geert G; Van Dijck, Anke A; Van der Aa, Nathalie N; McKenna, Brooke B; Hancarova, Miroslava M; Bendova, Sarka S; Havlovicova, Marketa M; Malerba, Giovanni G; Bernardina, Bernardo Dalla BD; Muglia, Pierandrea P; van Haeringen, Arie A; Hoffer, Mariette J V MJV; Franke, Barbara B; Cappuccio, Gerarda G; Delatycki, Martin M; Lockhart, Paul J PJ; Manning, Melanie A MA; Liu, Pengfei P; Scheffer, Ingrid E IE; Brunetti-Pierri, Nicola N; Rommelse, Nanda N; Amaral, David G DG; Santen, Gijs W E GWE; Trabetti, Elisabetta E; Sedláček, Zdeněk Z; Michaelson, Jacob J JJ; Pierce, Karen K; Courchesne, Eric E; Kooy, R Frank RF; , ; Nordenskjöld, Magnus M; Romano, Corrado C; Peeters, Hilde H; Bernier, Raphael A RA; Gecz, Jozef J; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2020-10-01

Variant appearance in text: SCN2A: 304C>T; Arg102Ter

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM10_ESM.xlsx, sheet 1

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Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations.

Eneuro

Mason, Emily R ER; Wu, Fenfen F; Patel, Reesha R RR; Xiao, Yucheng Y; Cannon, Stephen C SC; Cummins, Theodore R TR

Publication Date: 2019

Variant appearance in text: Nav1.2: R102X

PubMed Link: 31558572

Variant Present in the following documents:

• Main text
• ENEURO.0141-19.2019.pdf

View BVdb publication page

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Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.

Molecular Autism

Guo, Hui H; Wang, Tianyun T; Wu, Huidan H; Long, Min M; Coe, Bradley P BP; Li, Honghui H; Xun, Guanglei G; Ou, Jianjun J; Chen, Biyuan B; Duan, Guiqin G; Bai, Ting T; Zhao, Ningxia N; Shen, Yidong Y; Li, Yun Y; Wang, Yazhe Y; Zhang, Yu Y; Baker, Carl C; Liu, Yanling Y; Pang, Nan N; Huang, Lian L; Han, Lin L; Jia, Xiangbin X; Liu, Cenying C; Ni, Hailun H; Yang, Xinyi X; Xia, Lu L; Chen, Jingjing J; Shen, Lu L; Li, Ying Y; Zhao, Rongjuan R; Zhao, Wenjing W; Peng, Jing J; Pan, Qian Q; Long, Zhigao Z; Su, Wei W; Tan, Jieqiong J; Du, Xiaogang X; Ke, Xiaoyan X; Yao, Meiling M; Hu, Zhengmao Z; Zou, Xiaobing X; Zhao, Jingping J; Bernier, Raphael A RA; Eichler, Evan E EE; Xia, Kun K

Publication Date: 2018

Variant appearance in text: SCN2A: R102X

PubMed Link: 30564305

Variant Present in the following documents:

• 13229_2018_247_MOESM5_ESM.xlsx, sheet 1
• 13229_2018_247_MOESM8_ESM.pdf

View BVdb publication page

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Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

Communications Biology

Ogiwara, Ikuo I; Miyamoto, Hiroyuki H; Tatsukawa, Tetsuya T; Yamagata, Tetsushi T; Nakayama, Tojo T; Atapour, Nafiseh N; Miura, Eriko E; Mazaki, Emi E; Ernst, Sara J SJ; Cao, Dezhi D; Ohtani, Hideyuki H; Itohara, Shigeyoshi S; Yanagawa, Yuchio Y; Montal, Mauricio M; Yuzaki, Michisuke M; Inoue, Yushi Y; Hensch, Takao K TK; Noebels, Jeffrey L JL; Yamakawa, Kazuhiro K

Publication Date: 2018

Variant appearance in text: SCN2A: R102*

PubMed Link: 30175250

Variant Present in the following documents:

• Main text

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Genetic and epigenetic mechanisms of epilepsy: a review.

Neuropsychiatric Disease And Treatment

Chen, Tian T; Giri, Mohan M; Xia, Zhenyi Z; Subedi, Yadu Nanda YN; Li, Yan Y

Publication Date: 2017

Variant appearance in text: SCN2A: R102X

PubMed Link: 28761347

Variant Present in the following documents:

• Main text
• ndt-13-1841.pdf

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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: rs387906683

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.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: R102X

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: SCN2A: 304C>T; Arg102Ter

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-4.xlsx, sheet 1

View BVdb publication page

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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.

The Journal Of Physiology

Meisler, Miriam H MH; O'Brien, Janelle E JE; Sharkey, Lisa M LM

Publication Date: 2010-06-01

Variant appearance in text: SCN2A: R102X

PubMed Link: 20351042

Variant Present in the following documents:

• Main text

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De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

Neurology

Ogiwara, I I; Ito, K K; Sawaishi, Y Y; Osaka, H H; Mazaki, E E; Inoue, I I; Montal, M M; Hashikawa, T T; Shike, T T; Fujiwara, T T; Inoue, Y Y; Kaneda, M M; Yamakawa, K K

Publication Date: 2009-09-29

Variant appearance in text: SCN2A: R102X

PubMed Link: 19786696

Variant Present in the following documents:

• Main text

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Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Heart Rhythm

Medeiros-Domingo, Argelia A; Tan, Bi-Hua BH; Iturralde-Torres, Pedro P; Tester, David J DJ; Tusié-Luna, Teresa T; Makielski, Jonathan C JC; Ackerman, Michael J MJ

Publication Date: 2009-08

Variant appearance in text: SCN2A: R102X

PubMed Link: 19632629

Variant Present in the following documents:

• Main text

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Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.

American Journal Of Medical Genetics. Part A

McArdle, Erin J EJ; Kunic, Jennifer D JD; George, Alfred L AL

Publication Date: 2008-09-15

Variant appearance in text: SCN2A: R102X

PubMed Link: 18680191

Variant Present in the following documents:

• Main text

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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: R102X

PubMed Link: 17021166

Variant Present in the following documents:

• Main text

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A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline.

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

Kamiya, Kazusaku K; Kaneda, Makoto M; Sugawara, Takashi T; Mazaki, Emi E; Okamura, Nami N; Montal, Mauricio M; Makita, Naomasa N; Tanaka, Masaki M; Fukushima, Katsuyuki K; Fujiwara, Tateki T; Inoue, Yushi Y; Yamakawa, Kazuhiro K

Publication Date: 2004-03-17

Variant appearance in text:

PubMed Link: 15028761

Variant Present in the following documents:

• Main text

View BVdb publication page

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