Publications:

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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: SCN1A: 5347G>A; Ala1783Thr

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: SCN1A: 5347G>A; A1783T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1
• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Epilepsia Open

Jeffrey, Jennifer S JS; Leathem, Janet J; King, Chontelle C; Mefford, Heather C HC; Ross, Kirsty K; Sadleir, Lynette G LG

Publication Date: 2021-03

Variant appearance in text: SCN1A: 5347G>A; Ala1783Thr

PubMed Link: 33681658

Variant Present in the following documents:

• Main text
• EPI4-6-149.pdf

View BVdb publication page

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.

Epilepsia Open

Jeffrey, Jennifer S JS; Leathem, Janet J; King, Chontelle C; Mefford, Heather C HC; Ross, Kirsty K; Sadleir, Lynette G LG

Publication Date: 2021-03

Variant appearance in text: SCN1A: 5347G>A; Ala1783Thr

PubMed Link: 33681658

Variant Present in the following documents:

• Main text
• EPI4-6-149.pdf

View BVdb publication page

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Fatal Status Epilepticus in Dravet Syndrome.

Brain Sciences

De Liso, Paola P; Pironi, Virginia V; Mastrangelo, Massimo M; Battaglia, Domenica D; Craiu, Dana D; Trivisano, Marina M; Specchio, Nicola N; Nabbout, Rima R; Vigevano, Federico F

Publication Date: 2020-11-23

Variant appearance in text: SCN1A: 5347G>A; Ala1783thr

PubMed Link: 33238377

Variant Present in the following documents:

• Main text
• brainsci-10-00889.pdf

View BVdb publication page

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

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

Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I

Publication Date: 2020-12

Variant appearance in text: SCN1A: 5347G>A; Ala1783Thr

PubMed Link: 32773773

Variant Present in the following documents:

• 41436_2020_923_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Data on mutations and Clinical features in SCN1A or SCN2A gene.

Data In Brief

Kong, Yanting Y; Yan, Kai K; Hu, Liyuan L; Wang, Mingbang M; Dong, Xinran X; Lu, Yulan Y; Wu, Bingbing B; Wang, Huijun H; Yang, Lin L; Zhou, Wenhao W

Publication Date: 2019-02

Variant appearance in text: SCN1A: A1783T

PubMed Link: 30619928

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Dravet syndrome in South African infants: Tools for an early diagnosis.

Seizure

Esterhuizen, Alina I AI; Mefford, Heather C HC; Ramesar, Rajkumar S RS; Wang, Shuyu S; Carvill, Gemma L GL; Wilmshurst, Jo M JM

Publication Date: 2018-11

Variant appearance in text: rs121917980

PubMed Link: 30321769

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 5347G>A; Ala1783Thr

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

View BVdb publication page

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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: A1783T

PubMed Link: 28150151

Variant Present in the following documents:

• 13238_2017_Article_372.pdf

View BVdb publication page

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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia

Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2017-07

Variant appearance in text: SCN1A: A1783T

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.xlsx, sheet 1

View BVdb publication page

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Pitfalls in genetic testing: the story of missed SCN1A mutations.

Molecular Genetics & Genomic Medicine

Djémié, Tania T; Weckhuysen, Sarah S; von Spiczak, Sarah S; Carvill, Gemma L GL; Jaehn, Johanna J; Anttonen, Anna-Kaisa AK; Brilstra, Eva E; Caglayan, Hande S HS; de Kovel, Carolien G CG; Depienne, Christel C; Gaily, Eija E; Gennaro, Elena E; Giraldez, Beatriz G BG; Gormley, Padhraig P; Guerrero-López, Rosa R; Guerrini, Renzo R; Hämäläinen, Eija E; Hartmann, Corinna C; Hernandez-Hernandez, Laura L; Hjalgrim, Helle H; Koeleman, Bobby P C BP; Leguern, Eric E; Lehesjoki, Anna-Elina AE; Lemke, Johannes R JR; Leu, Costin C; Marini, Carla C; McMahon, Jacinta M JM; Mei, Davide D; Møller, Rikke S RS; Muhle, Hiltrud H; Myers, Candace T CT; Nava, Caroline C; Serratosa, Jose M JM; Sisodiya, Sanjay M SM; Stephani, Ulrich U; Striano, Pasquale P; van Kempen, Marjan J A MJ; Verbeek, Nienke E NE; Usluer, Sunay S; Zara, Federico F; Palotie, Aarno A; Mefford, Heather C HC; Scheffer, Ingrid E IE; De Jonghe, Peter P; Helbig, Ingo I; Suls, Arvid A; ,

Publication Date: 2016-07

Variant appearance in text: SCN1A: 5347G>A; Ala1783Thr

PubMed Link: 27465585

Variant Present in the following documents:

• Main text
• MGG3-4-457.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: A1783T; rs121917980

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: SCN1A: 5347G>A

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: SCN1A: A1783T

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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Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.

Human Mutation

Xu, Xiaojing X; Yang, Xiaoxu X; Wu, Qixi Q; Liu, Aijie A; Yang, Xiaoling X; Ye, Adam Yongxin AY; Huang, August Yue AY; Li, Jiarui J; Wang, Meng M; Yu, Zhe Z; Wang, Sheng S; Zhang, Zhichao Z; Wu, Xiru X; Wei, Liping L; Zhang, Yuehua Y

Publication Date: 2015-09

Variant appearance in text: SCN1A: 5347G>A; A1783T

PubMed Link: 26096185

Variant Present in the following documents:

• Main text
• HUMU-36-861.pdf

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High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile.

Epilepsia

Klassen, Tara L TL; Bomben, Valerie C VC; Patel, Ankita A; Drabek, Janice J; Chen, Tim T TT; Gu, Wenli W; Zhang, Feng F; Chapman, Kevin K; Lupski, James R JR; Noebels, Jeffrey L JL; Goldman, A M AM

Publication Date: 2014-02

Variant appearance in text: rs121917980

PubMed Link: 24372310

Variant Present in the following documents:

• Main text

View BVdb publication page

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