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: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: Kv7.3: R230C

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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: KCNQ3: 688C>T; R230C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.

Ebiomedicine

Miceli, Francesco F; Millevert, Charissa C; Soldovieri, Maria Virginia MV; Mosca, Ilaria I; Ambrosino, Paolo P; Carotenuto, Lidia L; Schrader, Dewi D; Lee, Hyun Kyung HK; Riviello, James J; Hong, William W; Risen, Sarah S; Emrick, Lisa L; Amin, Hitha H; Ville, Dorothée D; Edery, Patrick P; de Bellescize, Julitta J; Michaud, Vincent V; Van-Gils, Julien J; Goizet, Cyril C; Willemsen, Marjolein H MH; Kleefstra, Tjitske T; Møller, Rikke S RS; Bayat, Allan A; Devinsky, Orrin O; Sands, Tristan T; Korenke, G Christoph GC; Kluger, Gerhard G; Mefford, Heather C HC; Brilstra, Eva E; Lesca, Gaetan G; Milh, Mathieu M; Cooper, Edward C EC; Taglialatela, Maurizio M; Weckhuysen, Sarah S

Publication Date: 2022-07

Variant appearance in text: KCNQ3: R230C

PubMed Link: 35780567

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: KCNQ3: R230C; rs796052676

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.

Plos One

Aguilera, Cinthia C; Gabau, Elisabeth E; Ramirez-Mallafré, Ariadna A; Brun-Gasca, Carme C; Dominguez-Carral, Jana J; Delgadillo, Veronica V; Laurie, Steve S; Derdak, Sophia S; Padilla, Natàlia N; de la Cruz, Xavier X; Capdevila, Núria N; Spataro, Nino N; Baena, Neus N; Guitart, Miriam M; Ruiz, Anna A

Publication Date: 2021

Variant appearance in text: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 34653234

Variant Present in the following documents:

• Main text
• pone.0258766.pdf

View BVdb publication page

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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.

Brain Sciences

Valentino, Floriana F; Bruno, Lucia Pia LP; Doddato, Gabriella G; Giliberti, Annarita A; Tita, Rossella R; Resciniti, Sara S; Fallerini, Chiara C; Bruttini, Mirella M; Lo Rizzo, Caterina C; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Pinto, Anna Maria AM; Fava, Francesca F; Baldassarri, Margherita M; Fabbiani, Alessandra A; Lamacchia, Vittoria V; Benetti, Elisa E; Zguro, Kristina K; Furini, Simone S; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2021-07-16

Variant appearance in text: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 34356170

Variant Present in the following documents:

• Main text
• brainsci-11-00936.pdf

View BVdb publication page

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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: KCNQ3: 688C>T; R230C

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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De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal

Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J

Publication Date: 2021

Variant appearance in text: KCNQ3: 688C>T; R230C; rs796052676

PubMed Link: 33777337

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ3: R230C

PubMed Link: 33600800

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 33004838

Variant Present in the following documents:

• 41467_2020_18723_MOESM7_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM16_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_Article_18723.pdf
• 41467_2020_18723_MOESM5_ESM.xlsx, sheet 1
• 41467_2020_18723_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Frontiers In Genetics

Kessi, Miriam M; Chen, Baiyu B; Peng, Jing J; Tang, Yulin Y; Olatoutou, Eleonore E; He, Fang F; Yang, Lifen L; Yin, Fei F

Publication Date: 2020

Variant appearance in text: Kv7.3: R230C

PubMed Link: 32655623

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Cell

Satterstrom, F Kyle FK; Kosmicki, Jack A JA; Wang, Jiebiao J; Breen, Michael S MS; De Rubeis, Silvia S; An, Joon-Yong JY; Peng, Minshi M; Collins, Ryan R; Grove, Jakob J; Klei, Lambertus L; Stevens, Christine C; Reichert, Jennifer J; Mulhern, Maureen S MS; Artomov, Mykyta M; Gerges, Sherif S; Sheppard, Brooke B; Xu, Xinyi X; Bhaduri, Aparna A; Norman, Utku U; Brand, Harrison H; Schwartz, Grace G; Nguyen, Rachel R; Guerrero, Elizabeth E EE; Dias, Caroline C; , ; , ; Betancur, Catalina C; Cook, Edwin H EH; Gallagher, Louise L; Gill, Michael M; Sutcliffe, James S JS; Thurm, Audrey A; Zwick, Michael E ME; Børglum, Anders D AD; State, Matthew W MW; Cicek, A Ercument AE; Talkowski, Michael E ME; Cutler, David J DJ; Devlin, Bernie B; Sanders, Stephan J SJ; Roeder, Kathryn K; Daly, Mark J MJ; Buxbaum, Joseph D JD

Publication Date: 2020-02-06

Variant appearance in text: KCNQ3: R230C

PubMed Link: 31981491

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders.

Journal Of Neurodevelopmental Disorders

Trinh, Joanne J; Kandaswamy, Krishna Kumar KK; Werber, Martin M; Weiss, Maximilian E R MER; Oprea, Gabriela G; Kishore, Shivendra S; Lohmann, Katja K; Rolfs, Arndt A

Publication Date: 2019-06-25

Variant appearance in text: KCNQ3: Arg230Cys

PubMed Link: 31238879

Variant Present in the following documents:

• Main text
• 11689_2019_Article_9270.pdf

View BVdb publication page

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Nature Communications

Takata, Atsushi A; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Mizuguchi, Takeshi T; Mitsuhashi, Satomi S; Takahashi, Yukitoshi Y; Okamoto, Nobuhiko N; Osaka, Hitoshi H; Nakamura, Kazuyuki K; Tohyama, Jun J; Haginoya, Kazuhiro K; Takeshita, Saoko S; Kuki, Ichiro I; Okanishi, Tohru T; Goto, Tomohide T; Sasaki, Masayuki M; Sakai, Yasunari Y; Miyake, Noriko N; Miyatake, Satoko S; Tsuchida, Naomi N; Iwama, Kazuhiro K; Minase, Gaku G; Sekiguchi, Futoshi F; Fujita, Atsushi A; Imagawa, Eri E; Koshimizu, Eriko E; Uchiyama, Yuri Y; Hamanaka, Kohei K; Ohba, Chihiro C; Itai, Toshiyuki T; Aoi, Hiromi H; Saida, Ken K; Sakaguchi, Tomohiro T; Den, Kouhei K; Takahashi, Rina R; Ikeda, Hiroko H; Yamaguchi, Tokito T; Tsukamoto, Kazuki K; Yoshitomi, Shinsaku S; Oboshi, Taikan T; Imai, Katsumi K; Kimizu, Tomokazu T; Kobayashi, Yu Y; Kubota, Masaya M; Kashii, Hirofumi H; Baba, Shimpei S; Iai, Mizue M; Kira, Ryutaro R; Hara, Munetsugu M; Ohta, Masayasu M; Miyata, Yohane Y; Miyata, Rie R; Takanashi, Jun-Ichi JI; Matsui, Jun J; Yokochi, Kenji K; Shimono, Masayuki M; Amamoto, Masano M; Takayama, Rumiko R; Hirabayashi, Shinichi S; Aiba, Kaori K; Matsumoto, Hiroshi H; Nabatame, Shin S; Shiihara, Takashi T; Kato, Mitsuhiro M; Matsumoto, Naomichi N

Publication Date: 2019-06-07

Variant appearance in text: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 31175295

Variant Present in the following documents:

• 41467_2019_10482_MOESM7_ESM.xlsx, sheet 1
• 41467_2019_10482_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating an epileptogenic mutation.

The Journal Of General Physiology

Sedwick, Caitlin C

Publication Date: 2019-02-04

Variant appearance in text: KCNQ3: R230C

PubMed Link: 30626616

Variant Present in the following documents:

• Main text

View BVdb publication page

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Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.

The Journal Of General Physiology

Barro-Soria, Rene R

Publication Date: 2019-02-04

Variant appearance in text: KCNQ3: R230C

PubMed Link: 30578330

Variant Present in the following documents:

• Main text
• JGP_201812221_sm.pdf
• JGP_201812221.pdf

View BVdb publication page

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Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.

The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry

Niday, Zachary Z; Tzingounis, Anastasios V AV

Publication Date: 2018-08

Variant appearance in text: KCNQ3: R230C

PubMed Link: 29542386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: KCNQ3: R230C

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-4.xlsx, sheet 1

View BVdb publication page

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Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Epilepsia

Millichap, John J JJ; Miceli, Francesco F; De Maria, Michela M; Keator, Cynthia C; Joshi, Nishtha N; Tran, Baouyen B; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Shashi, Vandana V; Mikati, Mohamad A MA; Cooper, Edward C EC; Taglialatela, Maurizio M

Publication Date: 2017-01

Variant appearance in text: KCNQ3: R230C

PubMed Link: 27861786

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: KCNQ3: 688C>T; R230C

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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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: KCNQ3: R230C

PubMed Link: 26236192

Variant Present in the following documents:

• Main text
• fncel-09-00259.pdf

View BVdb publication page

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Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

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

Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Migliore, Michele M; Migliore, Rosanna R; Taglialatela, Maurizio M

Publication Date: 2015-03-04

Variant appearance in text: Kv7.3: R230C

PubMed Link: 25740509

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Nature Communications

Castro-Vega, Luis Jaime LJ; Letouzé, Eric E; Burnichon, Nelly N; Buffet, Alexandre A; Disderot, Pierre-Hélie PH; Khalifa, Emmanuel E; Loriot, Céline C; Elarouci, Nabila N; Morin, Aurélie A; Menara, Mélanie M; Lepoutre-Lussey, Charlotte C; Badoual, Cécile C; Sibony, Mathilde M; Dousset, Bertrand B; Libé, Rossella R; Zinzindohoue, Franck F; Plouin, Pierre François PF; Bertherat, Jérôme J; Amar, Laurence L; de Reyniès, Aurélien A; Favier, Judith J; Gimenez-Roqueplo, Anne-Paule AP

Publication Date: 2015-01-27

Variant appearance in text: KCNQ3: 688C>T; Arg230Cys

PubMed Link: 25625332

Variant Present in the following documents:

• ncomms7044-s3.xlsx, sheet 1

View BVdb publication page

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