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174 results

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Page 1
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, Rodríguez-Sacristán Cascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Epilepsia. 2020 Nov;61(11):2461-2473. doi: 10.1111/epi.16679. Epub 2020 Sep 21. Epilepsia. 2020. PMID: 32954514 Free article.
OBJECTIVE: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. METHODS: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited throug …
OBJECTIVE: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. METHODS: We …
Potassium channels and epilepsy.
Gao K, Lin Z, Wen S, Jiang Y. Gao K, et al. Acta Neurol Scand. 2022 Dec;146(6):699-707. doi: 10.1111/ane.13695. Epub 2022 Oct 12. Acta Neurol Scand. 2022. PMID: 36225112 Review.
We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNMA1, and KCNT1....
We focus on the progress of precison therapy on some hot epilepsy related potassium channel genes: KCNA1, KCNA2, KCNB1, KCNC1, KCND2, …
Voltage-gated potassium channels and genetic epilepsy.
Zheng Y, Chen J. Zheng Y, et al. Front Neurol. 2024 Oct 7;15:1466075. doi: 10.3389/fneur.2024.1466075. eCollection 2024. Front Neurol. 2024. PMID: 39434833 Free PMC article. Review.
Our focus is on the progress in precise treatments for specific voltage-gated potassium channel genes linked to epilepsy, including KCNA1, KCNA2, KCNB1, KCNC1, KCND2, KCNQ2, KCNQ3, KCNH1, and KCNH5....
Our focus is on the progress in precise treatments for specific voltage-gated potassium channel genes linked to epilepsy, including KCNA1, K …
Epilepsy With Eyelid Myoclonia (Jeavons Syndrome).
Zawar I, Knight EP. Zawar I, et al. Pediatr Neurol. 2021 Aug;121:75-80. doi: 10.1016/j.pediatrneurol.2020.11.018. Epub 2020 Dec 1. Pediatr Neurol. 2021. PMID: 34167046 Review.
Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA2022, and NAA10 may occur in these patients. It has been postulated that the occipital cortex may play a role in the pathophysiology. ...
Recent studies indicate that variations of certain genes including CHD2 (chromodomain helicase DNA-binding protein 2), KCNB1, KIAA202 …
kcnb1 loss of function in zebrafish causes neurodevelopmental and epileptic disorders associated with gamma-aminobutyric acid dysregulation.
Robichon L, Bar C, Marian A, Lehmann L, Renault S, Kabashi E, Ciura S, Nabbout R. Robichon L, et al. Epilepsia. 2025 Aug;66(8):3048-3063. doi: 10.1111/epi.18407. Epub 2025 May 7. Epilepsia. 2025. PMID: 40332468 Free PMC article.
OBJECTIVE: KCNB1 encodes an alpha-subunit of the delayed-rectifier voltage-dependent potassium channel K(v)2.1. ...Loss of function (LOF) of KCNB1 has been proposed as the pathogenic mechanism in these disorders. Here, we aim to characterize a knockout zebrafish lin …
OBJECTIVE: KCNB1 encodes an alpha-subunit of the delayed-rectifier voltage-dependent potassium channel K(v)2.1. ...Loss of function ( …
Oxidation of KCNB1 K(+) channels in central nervous system and beyond.
Sesti F, Wu X, Liu S. Sesti F, et al. World J Biol Chem. 2014 May 26;5(2):85-92. doi: 10.4331/wjbc.v5.i2.85. World J Biol Chem. 2014. PMID: 24921000 Free PMC article. Review.
Until recently the consensus view was that reactive oxygen species trigger a pro-apoptotic surge in KCNB1 current via phosphorylation and SNARE-dependent incorporation of KCNB1 channels into the plasma membrane. However, new evidence shows that KCNB1 can be m …
Until recently the consensus view was that reactive oxygen species trigger a pro-apoptotic surge in KCNB1 current via phosphorylation …
Functions and clinical significance of KCNB1 in esophageal squamous cell carcinoma.
Ota A, Shiozaki A, Shimizu H, Kosuga T, Kudou M, Nishibeppu K, Ohashi T, Arita T, Konishi H, Komatsu S, Kubota T, Fujiwara H, Morinaga Y, Konishi E, Otsuji E. Ota A, et al. J Gastroenterol. 2025 Jun;60(6):683-695. doi: 10.1007/s00535-025-02219-x. Epub 2025 Feb 2. J Gastroenterol. 2025. PMID: 39893596
RESULTS: Cell proliferation, G(2)-M phase progression, migration, and invasion were inhibited, and apoptosis was induced in KCNB1-depleted cells. Microarray results showed that KCNB1 gene expression affected Ephrin receptor signaling by suppressing EPHB1, EPHB2, and …
RESULTS: Cell proliferation, G(2)-M phase progression, migration, and invasion were inhibited, and apoptosis was induced in KCNB1-dep …
Gain-of-function enhancer variant near KCNB1 causes familial ST-depression syndrome.
Christensen AH, Pan G, Marvig RL, Rodriguez Gonzalez FG, Vissing CR, Silajdzija E, Frosted R, Girma EG, Gabrielaite M, Jensen HK, Rossing K, Henriksen FL, Sandgaard NCF, Ahlberg G, Ghouse J, Lundegaard PR, Weischenfeldt J, Wadelius C, Bundgaard H. Christensen AH, et al. Eur Heart J. 2025 Sep 15;46(35):3486-3497. doi: 10.1093/eurheartj/ehaf213. Eur Heart J. 2025. PMID: 40208226
The variant creates a MEF2-binding site and presence of the variant allele or MEF2 co-expression enhanced transcriptional activity. dCas9-activator/repressor assays showed that KCNB1 was the only gene consistently regulated by the locus and 4C experiments in AC16 cells and …
The variant creates a MEF2-binding site and presence of the variant allele or MEF2 co-expression enhanced transcriptional activity. dCas9-ac …
Role of KCNB1 in the prognosis of gliomas and autophagy modulation.
Wang HY, Wang W, Liu YW, Li MY, Liang TY, Li JY, Hu HM, Lu Y, Yao C, Ye YY, Wang YZ, Zhang SZ. Wang HY, et al. Sci Rep. 2017 Feb 8;7(1):14. doi: 10.1038/s41598-017-00045-7. Sci Rep. 2017. PMID: 28144039 Free PMC article.
Moreover, we characterized a novel function of autophagy induction accompanied by increased apoptosis and reduced proliferation and invasion of glioma cells for KCNB1. KEGG pathway analysis and in vitro studies suggested that the ERK pathway is involved in KCNB1-med …
Moreover, we characterized a novel function of autophagy induction accompanied by increased apoptosis and reduced proliferation and invasion …
Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.
Hawkins NA, Misra SN, Jurado M, Kang SK, Vierra NC, Nguyen K, Wren L, George AL Jr, Trimmer JS, Kearney JA. Hawkins NA, et al. Neurobiol Dis. 2021 Jan;147:105141. doi: 10.1016/j.nbd.2020.105141. Epub 2020 Oct 22. Neurobiol Dis. 2021. PMID: 33132203 Free PMC article.
To model this variant in vivo, we introduced Kcnb1(G379R) into mice using CRISPR/Cas9 genome editing. We characterized neuronal expression, neurological and neurobehavioral phenotypes of Kcnb1(G379R/+) (Kcnb1(R/+)) and Kcnb1(G379R/G379R) (Kcnb1( …
To model this variant in vivo, we introduced Kcnb1(G379R) into mice using CRISPR/Cas9 genome editing. We characterized neuronal expre …
174 results