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: KCNA2: 890G>A; Arg297Gln

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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Human In Vitro Models of Epilepsy Using Embryonic and Induced Pluripotent Stem Cells.

Cells

Javaid, Muhammad Shahid MS; Tan, Tracie T; Dvir, Naomi N; Anderson, Alison A; J O'Brien, Terence T; Kwan, Patrick P; Antonic-Baker, Ana A

Publication Date: 2022-12-07

Variant appearance in text: KCNA2: Arg297Gln

PubMed Link: 36552721

Variant Present in the following documents:

• cells-11-03957.pdf

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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: KCNA2: 890G>A; Arg297Gln

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KCNA2: R297Q

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

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: KCNA2: 890G>A; R297Q

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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Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.

Frontiers In Neurology

Mastrangelo, Mario M; Galosi, Serena S; Cesario, Serena S; Renzi, Alessia A; Campea, Lucilla L; Leuzzi, Vincenzo V

Publication Date: 2022

Variant appearance in text: KCNA2: 890G>A

PubMed Link: 35795805

Variant Present in the following documents:

• Main text
• fneur-13-855134.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: KCNA2: 890G>A; Arg297Gln

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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Modeling Epilepsy Using Human Induced Pluripotent Stem Cells-Derived Neuronal Cultures Carrying Mutations in Ion Channels and the Mechanistic Target of Rapamycin Pathway.

Frontiers In Molecular Neuroscience

Weng, Octavia Yifang OY; Li, Yun Y; Wang, Lu-Yang LY

Publication Date: 2022

Variant appearance in text: KCNA2: Arg297Gln

PubMed Link: 35359577

Variant Present in the following documents:

• fnmol-15-810081.pdf

View BVdb publication page

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Molecular Medicine (Cambridge, Mass.)

Seo, Go Hun GH; Lee, Hane H; Lee, Jungsul J; Han, Heonjong H; Cho, You Kyung YK; Kim, Minji M; Choi, Yunha Y; Choi, Jeongmin J; Choi, In Hee IH; Rhie, Seonkyeong S; Chae, Kyu Young KY; Kim, Yoo-Mi YM; Cheon, Chong Kun CK; Kim, Su Jin SJ; Lee, Jieun J; Kang, Eungu E; Byeon, Jung Hye JH; Yu, Hee Joon HJ; Shin, Young-Lim YL; Oh, Arum A; Kim, Woo Jin WJ; Yum, Mi-Sun MS; Lee, Beom Hee BH; Eun, Baik-Lin BL

Publication Date: 2022-03-26

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 35346031

Variant Present in the following documents:

• 10020_2022_464_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.

Frontiers In Neurology

Perilli, Lorenzo L; Mastromoro, Gioia G; Murciano, Manuel M; Amedeo, Ilaria I; Avenoso, Federica F; Pizzuti, Antonio A; Guido, Cristiana Alessia CA; Spalice, Alberto A

Publication Date: 2021

Variant appearance in text: KCNA2: 890G>A

PubMed Link: 35178022

Variant Present in the following documents:

• Main text
• fneur-12-806516.pdf

View BVdb publication page

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Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.

Brain Communications

Qaiser, Farah F; Sadoway, Tara T; Yin, Yue Y; Zulfiqar Ali, Quratulain Q; Nguyen, Charlotte M CM; Shum, Natalie N; Backstrom, Ian I; Marques, Paula T PT; Tabarestani, Sepideh S; Munhoz, Renato P RP; Krings, Timo T; Pearson, Christopher E CE; Yuen, Ryan K C RKC; Andrade, Danielle M DM

Publication Date: 2021

Variant appearance in text: KCNA2: R297Q

PubMed Link: 34622207

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

International Journal Of Molecular Sciences

Imbrici, Paola P; Conte, Elena E; Blunck, Rikard R; Stregapede, Fabrizia F; Liantonio, Antonella A; Tosi, Michele M; D'Adamo, Maria Cristina MC; De Luca, Annamaria A; Brankovic, Vesna V; Zanni, Ginevra G

Publication Date: 2021-09-14

Variant appearance in text: Kv1.2: R297Q

PubMed Link: 34576077

Variant Present in the following documents:

• Main text
• ijms-22-09913.pdf

View BVdb publication page

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NGS in Hereditary Ataxia: When Rare Becomes Frequent.

International Journal Of Molecular Sciences

Galatolo, Daniele D; De Michele, Giovanna G; Silvestri, Gabriella G; Leuzzi, Vincenzo V; Casali, Carlo C; Musumeci, Olimpia O; Antenora, Antonella A; Astrea, Guja G; Barghigiani, Melissa M; Battini, Roberta R; Battisti, Carla C; Caputi, Caterina C; Cioffi, Ettore E; De Michele, Giuseppe G; Dotti, Maria Teresa MT; Fico, Tommasina T; Fiorillo, Chiara C; Galosi, Serena S; Lieto, Maria M; Malandrini, Alessandro A; Melone, Marina A B MAB; Mignarri, Andrea A; Natale, Gemma G; Pegoraro, Elena E; Petrucci, Antonio A; Ricca, Ivana I; Riso, Vittorio V; Rossi, Salvatore S; Rubegni, Anna A; Scarlatti, Arianna A; Tinelli, Francesca F; Trovato, Rosanna R; Tedeschi, Gioacchino G; Tessa, Alessandra A; Filla, Alessandro A; Santorelli, Filippo Maria FM

Publication Date: 2021-08-06

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 34445196

Variant Present in the following documents:

• Main text
• ijms-22-08490.pdf

View BVdb publication page

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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.

European Journal Of Human Genetics : Ejhg

Matalonga, Leslie L; Hernández-Ferrer, Carles C; Piscia, Davide D; , ; Schüle, Rebecca R; Synofzik, Matthis M; Töpf, Ana A; Vissers, Lisenka E L M LELM; de Voer, Richarda R; , ; , ; , ; , ; Tonda, Raul R; Laurie, Steven S; Fernandez-Callejo, Marcos M; Picó, Daniel D; Garcia-Linares, Carles C; Papakonstantinou, Anastasios A; Corvó, Alberto A; Joshi, Ricky R; Diez, Hector H; Gut, Ivo I; Hoischen, Alexander A; Graessner, Holm H; Beltran, Sergi S; ,

Publication Date: 2021-09

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 34075210

Variant Present in the following documents:

• 41431_2021_852_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders.

International Journal Of Molecular Sciences

Döring, Jan H JH; Schröter, Julian J; Jüngling, Jerome J; Biskup, Saskia S; Klotz, Kerstin A KA; Bast, Thomas T; Dietel, Tobias T; Korenke, G Christoph GC; Christoph, Sophie S; Brennenstuhl, Heiko H; Rubboli, Guido G; Møller, Rikke S RS; Lesca, Gaetan G; Chaix, Yves Y; Kölker, Stefan S; Hoffmann, Georg F GF; Lemke, Johannes R JR; Syrbe, Steffen S

Publication Date: 2021-03-10

Variant appearance in text: KCNA2: 890G>A

PubMed Link: 33802230

Variant Present in the following documents:

• Main text
• ijms-22-02824.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: KCNA2: 890G>A; Arg297Gln

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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A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.

Human Mutation

Ngo, Kathie J KJ; Rexach, Jessica E JE; Lee, Hane H; Petty, Lauren E LE; Perlman, Susan S; Valera, Juliana M JM; Deignan, Joshua L JL; Mao, Yuanming Y; Aker, Mamdouh M; Posey, Jennifer E JE; Jhangiani, Shalini N SN; Coban-Akdemir, Zeynep H ZH; Boerwinkle, Eric E; Muzny, Donna D; Nelson, Alexandra B AB; Hassin-Baer, Sharon S; Poke, Gemma G; Neas, Katherine K; Geschwind, Michael D MD; Grody, Wayne W WW; Gibbs, Richard R; Geschwind, Daniel H DH; Lupski, James R JR; Below, Jennifer E JE; Nelson, Stanley F SF; Fogel, Brent L BL

Publication Date: 2020-02

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 31692161

Variant Present in the following documents:

• Main text

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations.

Nature Communications

Baronas, Victoria A VA; Yang, Runying Y RY; Morales, Luis Carlos LC; Sipione, Simonetta S; Kurata, Harley T HT

Publication Date: 2018-10-24

Variant appearance in text: Kv1.2: R297Q

PubMed Link: 30356053

Variant Present in the following documents:

• Main text
• 41467_2018_6859_MOESM1_ESM.pdf
• 41467_2018_Article_6859.pdf

View BVdb publication page

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Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.

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

He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Wei, Feng F; Meng, Heng H; Liu, Xiao-Rong XR; Chen, Qian Q; Su, Tao T; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2019-01

Variant appearance in text: Kv1.2: R297Q

PubMed Link: 29895856

Variant Present in the following documents:

• Main text
• 41436_2018_Article_11.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: Kv1.2: R297Q

PubMed Link: 29542386

Variant Present in the following documents:

• Main text

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: KCNA2: R297Q

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Molecular Syndromology

Møller, Rikke S RS; Larsen, Line H G LH; Johannesen, Katrine M KM; Talvik, Inga I; Talvik, Tiina T; Vaher, Ulvi U; Miranda, Maria J MJ; Farooq, Muhammad M; Nielsen, Jens E K JE; Svendsen, Lene Lavard LL; Kjelgaard, Ditte B DB; Linnet, Karen M KM; Hao, Qin Q; Uldall, Peter P; Frangu, Mimoza M; Tommerup, Niels N; Baig, Shahid M SM; Abdullah, Uzma U; Born, Alfred P AP; Gellert, Pia P; Nikanorova, Marina M; Olofsson, Kern K; Jepsen, Birgit B; Marjanovic, Dragan D; Al-Zehhawi, Lana I K LI; Peñalva, Sofia J SJ; Krag-Olsen, Bente B; Brusgaard, Klaus K; Hjalgrim, Helle H; Rubboli, Guido G; Pal, Deb K DK; Dahl, Hans A HA

Publication Date: 2016-09

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 27781031

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology

Corbett, Mark A MA; Bellows, Susannah T ST; Li, Melody M; Carroll, Renée R; Micallef, Silvana S; Carvill, Gemma L GL; Myers, Candace T CT; Howell, Katherine B KB; Maljevic, Snezana S; Lerche, Holger H; Gazina, Elena V EV; Mefford, Heather C HC; Bahlo, Melanie M; Berkovic, Samuel F SF; Petrou, Steven S; Scheffer, Ingrid E IE; Gecz, Jozef J

Publication Date: 2016-11-08

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 27733563

Variant Present in the following documents:

• Main text

View BVdb publication page

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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia.

Annals Of Neurology

Helbig, Katherine L KL; Hedrich, Ulrike B S UB; Shinde, Deepali N DN; Krey, Ilona I; Teichmann, Anne-Christin AC; Hentschel, Julia J; Schubert, Julian J; Chamberlin, Adam C AC; Huether, Robert R; Lu, Hsiao-Mei HM; Alcaraz, Wendy A WA; Tang, Sha S; Jungbluth, Chelsy C; Dugan, Sarah L SL; Vainionpää, Leena L; Karle, Kathrin N KN; Synofzik, Matthis M; Schöls, Ludger L; Schüle, Rebecca R; Lehesjoki, Anna-Elina AE; Helbig, Ingo I; Lerche, Holger H; Lemke, Johannes R JR

Publication Date: 2016-10

Variant appearance in text: KCNA2: R297Q

PubMed Link: 27543892

Variant Present in the following documents:

• Main text
• ANA-80-0.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNA2: R297Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

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A new tool for prioritization of sequence variants from whole exome sequencing data.

Source Code For Biology And Medicine

Glanzmann, Brigitte B; Herbst, Hendri H; Kinnear, Craig J CJ; Möller, Marlo M; Gamieldien, Junaid J; Bardien, Soraya S

Publication Date: 2016

Variant appearance in text: KCNA2: R297Q

PubMed Link: 27375772

Variant Present in the following documents:

• Main text
• 13029_2016_Article_56.pdf

View BVdb publication page

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In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurology. Genetics

Oliver, Karen L KL; Lukic, Vesna V; Freytag, Saskia S; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Bahlo, Melanie M

Publication Date: 2016-02

Variant appearance in text: KCNA2: 890G>A; Arg297Gln

PubMed Link: 27066588

Variant Present in the following documents:

• supp_2.1.e51_table_e-2.xlsx, sheet 1

View BVdb publication page

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Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.

Frontiers In Cellular Neuroscience

Villa, Chiara C; Combi, Romina R

Publication Date: 2016

Variant appearance in text: Kv1.2: Arg297Gln

PubMed Link: 27064559

Variant Present in the following documents:

• Main text
• fncel-10-00081.pdf

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: KCNA2: R297Q

PubMed Link: 26236192

Variant Present in the following documents:

• Main text

View BVdb publication page

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Voltage-dependent gating and gating charge measurements in the Kv1.2 potassium channel.

The Journal Of General Physiology

Ishida, Itzel G IG; Rangel-Yescas, Gisela E GE; Carrasco-Zanini, Julia J; Islas, León D LD

Publication Date: 2015-04

Variant appearance in text: Kv1.2: R297Q

PubMed Link: 25779871

Variant Present in the following documents:

• Main text

View BVdb publication page

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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Nature Genetics

Syrbe, Steffen S; Hedrich, Ulrike B S UBS; Riesch, Erik E; Djémié, Tania T; Müller, Stephan S; Møller, Rikke S RS; Maher, Bridget B; Hernandez-Hernandez, Laura L; Synofzik, Matthis M; Caglayan, Hande S HS; Arslan, Mutluay M; Serratosa, José M JM; Nothnagel, Michael M; May, Patrick P; Krause, Roland R; Löffler, Heidrun H; Detert, Katja K; Dorn, Thomas T; Vogt, Heinrich H; Krämer, Günter G; Schöls, Ludger L; Mullis, Primus E PE; Linnankivi, Tarja T; Lehesjoki, Anna-Elina AE; Sterbova, Katalin K; Craiu, Dana C DC; Hoffman-Zacharska, Dorota D; Korff, Christian M CM; Weber, Yvonne G YG; Steinlin, Maja M; Gallati, Sabina S; Bertsche, Astrid A; Bernhard, Matthias K MK; Merkenschlager, Andreas A; Kiess, Wieland W; , ; Gonzalez, Michael M; Züchner, Stephan S; Palotie, Aarno A; Suls, Arvid A; De Jonghe, Peter P; Helbig, Ingo I; Biskup, Saskia S; Wolff, Markus M; Maljevic, Snezana S; Schüle, Rebecca R; Sisodiya, Sanjay M SM; Weckhuysen, Sarah S; Lerche, Holger H; Lemke, Johannes R JR

Publication Date: 2015-04

Variant appearance in text: KCNA2: 890G>A

PubMed Link: 25751627

Variant Present in the following documents:

• Main text
• emss-62156.pdf
• NIHMS62156-supplement-4.xlsx, sheet 2

View BVdb publication page

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A theoretical model for calculating voltage sensitivity of ion channels and the application on Kv1.2 potassium channel.

Biophysical Journal

Yang, Huaiyu H; Gao, Zhaobing Z; Li, Ping P; Yu, Kunqian K; Yu, Ye Y; Xu, Tian-Le TL; Li, Min M; Jiang, Hualiang H

Publication Date: 2012-04-18

Variant appearance in text: Kv1.2: R297Q

PubMed Link: 22768937

Variant Present in the following documents:

• Main text

View BVdb publication page

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