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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 …
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R. Bar C, et al. Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4. Hum Mutat. 2020. PMID: 31513310 Free article. Review.
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the alpha subunit of the delayed rectifier vo …
Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in …
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 …
Kcnb1 plays a role in development of the inner ear.
Jedrychowska J, Gasanov EV, Korzh V. Jedrychowska J, et al. Dev Biol. 2021 Mar;471:65-75. doi: 10.1016/j.ydbio.2020.12.007. Epub 2020 Dec 11. Dev Biol. 2021. PMID: 33316259 Free article.
The slow-inactivating delayed rectifier Kv2.1/KCNB1 channel works in the inner ear in mammals. The kcnb1 gene is expressed in the otic vesicle of developing zebrafish, suggesting its role in development of the inner ear. ...These results demonstrate a role for Kv2.1 …
The slow-inactivating delayed rectifier Kv2.1/KCNB1 channel works in the inner ear in mammals. The kcnb1 gene is expressed in …
Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.
Bar C, Breuillard D, Kuchenbuch M, Jennesson M, Le Guyader G, Isnard H, Rolland A, Doummar D, Fluss J, Afenjar A, Berquin P, De Saint Martin A, Dupont S, Goldenberg A, Lederer D, Lesca G, Maurey H, Meyer P, Mignot C, Nica A, Odent S, Poisson A, Scalais E, Sekhara T, Vrielynck P, Barcia G, Nabbout R. Bar C, et al. Epilepsy Behav. 2022 Jan;126:108471. doi: 10.1016/j.yebeh.2021.108471. Epub 2021 Dec 13. Epilepsy Behav. 2022. PMID: 34915430 Free article.
AIM: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the adaptive and behavio …
AIM: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and e …
Integrin-KCNB1 potassium channel complexes regulate neocortical neuronal development and are implicated in epilepsy.
Bortolami A, Yu W, Forzisi E, Ercan K, Kadakia R, Murugan M, Fedele D, Estevez I, Boison D, Rasin MR, Sesti F. Bortolami A, et al. Cell Death Differ. 2023 Mar;30(3):687-701. doi: 10.1038/s41418-022-01072-2. Epub 2022 Oct 7. Cell Death Differ. 2023. PMID: 36207442 Free PMC article.
Here, we investigate the role of voltage-gated K(+) channel KCNB1 (Kv2.1) in neocortical development. Neuronal migration of glutamatergic neurons was impaired in the neocortices of KCNB1 null mice. ...Mice developed seizure phenotype, anxiety, and compulsive behavio …
Here, we investigate the role of voltage-gated K(+) channel KCNB1 (Kv2.1) in neocortical development. Neuronal migration of glutamate …
KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
Uctepe E, Esen FN, Tümer S, Mancılar H, Yeşilyurt A. Uctepe E, et al. Intractable Rare Dis Res. 2022 Nov;11(4):219-221. doi: 10.5582/irdr.2022.01096. Intractable Rare Dis Res. 2022. PMID: 36457583 Free PMC article.
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental delay, behavioral disorders, and various epilepsies. ...Our study shows that frameshift mutation cytoplasmic domain …
Potassium voltage-gated channel subfamily B member 1 (KCNB1) encodes Kv2.1 potassium channel. KCNB1 mutations are known to cau …
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 ( …
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 …
[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature].
Miao P, Peng J, Chen C, Gai N, Yin F. Miao P, et al. Zhonghua Er Ke Za Zhi. 2017 Feb 2;55(2):115-119. doi: 10.3760/cma.j.issn.0578-1310.2017.02.012. Zhonghua Er Ke Za Zhi. 2017. PMID: 28173649 Review. Chinese.
This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene mutation was searched and collected from Pubmed, CNKI, Human Gene Mutation Database(HGMD) and Online Mendelian Inheritance in Man(OMIM). .. …
This patient was discovered to have KCNB1 gene mutations through whole exome sequencing. Relevant information about KCNB1 gene …
411 results