Publications:

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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: G401R

PubMed Link: 36618935

Variant Present in the following documents:

• Main text
• fphar-13-1093313.pdf

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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: G401R

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: 1201G>A; Gly401Arg

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4
• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

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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: G401R

PubMed Link: 32655623

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G401R

PubMed Link: 31600826

Variant Present in the following documents:

• Main text

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: KCNB1: 1201G>A; Gly401Arg

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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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: Gly401Arg

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: G401R

PubMed Link: 28806457

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: KCNB1: G401R

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pore size matters for potassium channel conductance.

The Journal Of General Physiology

Naranjo, David D; Moldenhauer, Hans H; Pincuntureo, Matías M; Díaz-Franulic, Ignacio I

Publication Date: 2016-10

Variant appearance in text: KCNB1: G401R

PubMed Link: 27619418

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: G401R

PubMed Link: 27073348

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1201G>A

PubMed Link: 26477325

Variant Present in the following documents:

• Main text
• srep15199.pdf

View BVdb publication page

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