Publications:

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Altered neurological and neurobehavioral phenotypes in a mouse model of the recurrent KCNB1 -p.R306C voltage-sensor variant.

Biorxiv : The Preprint Server For Biology

Kang, Seok Kyu SK; Hawkins, Nicole A NA; Echevarria-Cooper, Dennis M DM; Baker, Erin M EM; Dixon, Conor J CJ; Speakes, Nathan N; Kearney, Jennifer A JA

Publication Date: 2023-03-30

Variant appearance in text: KCNB1: G379R

PubMed Link: 37034689

Variant Present in the following documents:

• Main text
• nihpp-2023.03.29.534736v1.pdf

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A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.

Frontiers In Pharmacology

Veale, Emma L EL; Golluscio, Alessia A; Grand, Katheryn K; Graham, John M JM; Mathie, Alistair A

Publication Date: 2022

Variant appearance in text: KCNB1: G379R

PubMed Link: 36618935

Variant Present in the following documents:

• Main text
• fphar-13-1093313.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: KCNB1: 1135G>A; Gly379Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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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: KCNB1: G379R

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

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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: KCNB1: 1135G>A; Gly379Arg

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

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Correlation Analyses of Clinical Manifestations and Variant Effects in KCNB1-Related Neurodevelopmental Disorder.

Frontiers In Pediatrics

Xiong, Juan J; Liu, Zhonghua Z; Chen, Shimeng S; Kessi, Miriam M; Chen, Baiyu B; Duan, Haolin H; Deng, Xiaolu X; Yang, Lifen L; Peng, Jing J; Yin, Fei F

Publication Date: 2021

Variant appearance in text: KCNB1: G379R

PubMed Link: 35071126

Variant Present in the following documents:

• Main text
• fped-09-755344.pdf

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Channelopathy of Dravet Syndrome and Potential Neuroprotective Effects of Cannabidiol.

Journal Of Central Nervous System Disease

Xu, Changqing C; Zhang, Yumin Y; Gozal, David D; Carney, Paul P

Publication Date: 2021

Variant appearance in text: KCNB1: G379R

PubMed Link: 34992485

Variant Present in the following documents:

• Main text
• 10.1177_11795735211048045.pdf

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Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Neurobiology Of Disease

Hawkins, Nicole A NA; Misra, Sunita N SN; Jurado, Manuel M; Kang, Seok Kyu SK; Vierra, Nicholas C NC; Nguyen, Kimberly K; Wren, Lisa L; George, Alfred L AL; Trimmer, James S JS; Kearney, Jennifer A JA

Publication Date: 2021-01

Variant appearance in text: KCNB1: G379R

PubMed Link: 33132203

Variant Present in the following documents:

• Main text
• NIHMS1644240-supplement-6.pdf
• nihms-1644240.pdf

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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: Kv2.1: G379R

PubMed Link: 32655623

Variant Present in the following documents:

• Main text
• fgene-11-00614.pdf

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Complexes formed with integrin-α5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Yu, Wei W; Shin, Mi Ryung MR; Sesti, Federico F

Publication Date: 2019-12

Variant appearance in text: KCNB1: G379R

PubMed Link: 31682765

Variant Present in the following documents:

• Main text

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Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Annals Of Neurology

Kang, Seok Kyu SK; Vanoye, Carlos G CG; Misra, Sunita N SN; Echevarria, Dennis M DM; Calhoun, Jeffrey D JD; O'Connor, John B JB; Fabre, Katarina L KL; McKnight, Dianalee D; Demmer, Laurie L; Goldenberg, Paula P; Grote, Lauren E LE; Thiffault, Isabelle I; Saunders, Carol C; Strauss, Kevin A KA; Torkamani, Ali A; van der Smagt, Jasper J; van Gassen, Koen K; Carson, Robert P RP; Diaz, Jullianne J; Leon, Eyby E; Jacher, Joseph E JE; Hannibal, Mark C MC; Litwin, Jessica J; Friedman, Neil R NR; Schreiber, Allison A; Lynch, Bryan B; Poduri, Annapurna A; Marsh, Eric D ED; Goldberg, Ethan M EM; Millichap, John J JJ; George, Alfred L AL; Kearney, Jennifer A JA

Publication Date: 2019-12

Variant appearance in text: KCNB1: G379R

PubMed Link: 31600826

Variant Present in the following documents:

• Main text

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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: Kv2.1: G379R

PubMed Link: 29542386

Variant Present in the following documents:

• Main text

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Monogenic disorders that mimic the phenotype of Rett syndrome.

Neurogenetics

Srivastava, Siddharth S; Desai, Sonal S; Cohen, Julie J; Smith-Hicks, Constance C; Barañano, Kristin K; Fatemi, Ali A; Naidu, SakkuBai S

Publication Date: 2018-01

Variant appearance in text: KCNB1: 1135G>A; G379R

PubMed Link: 29322350

Variant Present in the following documents:

• Main text

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Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

Neurology. Genetics

Marini, Carla C; Romoli, Michele M; Parrini, Elena E; Costa, Cinzia C; Mei, Davide D; Mari, Francesco F; Parmeggiani, Lucio L; Procopio, Elena E; Metitieri, Tiziana T; Cellini, Elena E; Virdò, Simona S; De Vita, Dalila D; Gentile, Mattia M; Prontera, Paolo P; Calabresi, Paolo P; Guerrini, Renzo R

Publication Date: 2017-12

Variant appearance in text: KCNB1: Gly379Arg

PubMed Link: 29264397

Variant Present in the following documents:

• NG2017005967.pdf

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

Jama Neurology

de Kovel, Carolien G F CGF; Syrbe, Steffen S; Brilstra, Eva H EH; Verbeek, Nienke N; Kerr, Bronwyn B; Dubbs, Holly H; Bayat, Allan A; Desai, Sonal S; Naidu, Sakkubai S; Srivastava, Siddharth S; Cagaylan, Hande H; Yis, Uluc U; Saunders, Carol C; Rook, Martin M; Plugge, Susanna S; Muhle, Hiltrud H; Afawi, Zaid Z; Klein, Karl-Martin KM; Jayaraman, Vijayakumar V; Rajagopalan, Ramakrishnan R; Goldberg, Ethan E; Marsh, Eric E; Kessler, Sudha S; Bergqvist, Christina C; Conlin, Laura K LK; Krok, Bryan L BL; Thiffault, Isabelle I; Pendziwiat, Manuela M; Helbig, Ingo I; Polster, Tilman T; Borggraefe, Ingo I; Lemke, Johannes R JR; van den Boogaardt, Marie-José MJ; Møller, Rikke S RS; Koeleman, Bobby P C BPC

Publication Date: 2017-10-01

Variant appearance in text: KCNB1: G379R

PubMed Link: 28806457

Variant Present in the following documents:

• Main text

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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: KCNB1: G379R

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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When Inhibiting Repetitive Firing is Pro-Epileptic.

Epilepsy Currents

Kearney, Jennifer A JA

Publication Date: 2016

Variant appearance in text: KCNB1: G379R

PubMed Link: 27073348

Variant Present in the following documents:

• Main text

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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: KCNB1: 1135G>A; Gly379Arg

PubMed Link: 27066588

Variant Present in the following documents:

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

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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

The Journal Of General Physiology

Thiffault, Isabelle I; Speca, David J DJ; Austin, Daniel C DC; Cobb, Melanie M MM; Eum, Kenneth S KS; Safina, Nicole P NP; Grote, Lauren L; Farrow, Emily G EG; Miller, Neil N; Soden, Sarah S; Kingsmore, Stephen F SF; Trimmer, James S JS; Saunders, Carol J CJ; Sack, Jon T JT

Publication Date: 2015-11

Variant appearance in text: N/A

PubMed Link: 26503721

Variant Present in the following documents:

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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.

Scientific Reports

Saitsu, Hirotomo H; Akita, Tenpei T; Tohyama, Jun J; Goldberg-Stern, Hadassa H; Kobayashi, Yu Y; Cohen, Roni R; Kato, Mitsuhiro M; Ohba, Chihiro C; Miyatake, Satoko S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Miyake, Noriko N; Fukuda, Atsuo A; Matsumoto, Naomichi N

Publication Date: 2015-10-19

Variant appearance in text: KCNB1: 1135G>A

PubMed Link: 26477325

Variant Present in the following documents:

• Main text
• srep15199.pdf

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De novo KCNB1 mutations in epileptic encephalopathy.

Annals Of Neurology

Torkamani, Ali A; Bersell, Kevin K; Jorge, Benjamin S BS; Bjork, Robert L RL; Friedman, Jennifer R JR; Bloss, Cinnamon S CS; Cohen, Julie J; Gupta, Siddharth S; Naidu, Sakkubai S; Vanoye, Carlos G CG; George, Alfred L AL; Kearney, Jennifer A JA

Publication Date: 2014-10

Variant appearance in text: N/A

PubMed Link: 25164438

Variant Present in the following documents:

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