KCNB1 c.1248C>G ;(p.F416L)

Variant ID: 20-47990849-G-C

NM_004975.2(KCNB1):c.1248C>G;(p.F416L)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: F416L
PubMed Link: 31682765
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: F416L
PubMed Link: 31600826
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: Phe416Leu
PubMed Link: 29264397
Variant Present in the following documents:
  • NG2017005967.pdf
View BVdb publication page



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: F416L
PubMed Link: 28806457
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: F416L
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Molecular Genetics & Genomic Medicine
de Kovel, Carolien G F CG; Brilstra, Eva H EH; van Kempen, Marjan J A MJ; Van't Slot, Ruben R; Nijman, Isaac J IJ; Afawi, Zaid Z; De Jonghe, Peter P; Djémié, Tania T; Guerrini, Renzo R; Hardies, Katia K; Helbig, Ingo I; Hendrickx, Rik R; Kanaan, Moine M; Kramer, Uri U; Lehesjoki, Anna-Elina E AE; Lemke, Johannes R JR; Marini, Carla C; Mei, Davide D; Møller, Rikke S RS; Pendziwiat, Manuela M; Stamberger, Hannah H; Suls, Arvid A; Weckhuysen, Sarah S; , ; Koeleman, Bobby P C BP
Publication Date: 2016-09

Variant appearance in text: KCNB1: F416L
PubMed Link: 27652284
Variant Present in the following documents:
  • Main text
  • MGG3-4-568-s002.xlsx, sheet 1
  • MGG3-4-568.pdf
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: KCNB1: F416L
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page