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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, …
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article. Review.
EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances in genetic testing have broadened the KCNA1 and CACNA1A phenotypes, and detected EA as an unusual presentation of several other genet …
EA1 and EA2 are most frequently encountered, caused by mutations in KCNA1 and CACNA1A. EA3-8 are reported in rare families. Advances …
Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy.
Paulhus K, Glasscock E. Paulhus K, et al. Int J Mol Sci. 2023 May 16;24(10):8826. doi: 10.3390/ijms24108826. Int J Mol Sci. 2023. PMID: 37240170 Free PMC article. Review.
The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel alpha subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability. ...These findings improve our understanding of KCNA1 channelopathy and promise to e …
The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel alpha subunits, which are crucial for maintaining healthy …
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC, Liantonio A, Rolland JF, Pessia M, Imbrici P. D'Adamo MC, et al. Int J Mol Sci. 2020 Apr 22;21(8):2935. doi: 10.3390/ijms21082935. Int J Mol Sci. 2020. PMID: 32331416 Free PMC article. Review.
Dysfunctions of the Kv1.1 channel have been also associated with epilepsy and kcna1 knock-out mouse is considered a model of sudden unexpected death in epilepsy. The tissue-specific association of Kv1.1 with other Kv1 members, auxiliary and inte …
Dysfunctions of the Kv1.1 channel have been also associated with epilepsy and kcna1 knock-out mouse is considered a mod …
Genotype-phenotype relations for episodic ataxia genes: MDSGene systematic review.
Olszewska DA, Shetty A, Rajalingam R, Rodriguez-Antiguedad J, Hamed M, Huang J, Breza M, Rasheed A, Bahr N, Madoev H, Westenberger A, Trinh J, Lohmann K, Klein C, Marras C, Waln O. Olszewska DA, et al. Eur J Neurol. 2023 Oct;30(10):3377-3393. doi: 10.1111/ene.15969. Epub 2023 Jul 17. Eur J Neurol. 2023. PMID: 37422902 Review.
BACKGROUND: Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxysmal and non-paroxysmal features. EA is often caused by pathogenic variants in the CACNA1A, KCNA1, PDHA1, and SLC1A3 genes, listed as …
BACKGROUND: Most episodic ataxias (EA) are autosomal dominantly inherited and characterized by recurrent attacks of ataxia and other paroxys …
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K, Ammerman L, Glasscock E. Paulhus K, et al. Int J Mol Sci. 2020 Apr 17;21(8):2802. doi: 10.3390/ijms21082802. Int J Mol Sci. 2020. PMID: 32316562 Free PMC article. Review.
Mutations in the KCNA1 gene, which encodes voltage-gated Kv1.1 potassium channel alpha-subunits, cause a variety of human diseases, complicating simple genotype-phenotype correlations in patients. ...Analyses of the 47 deleterious KCNA1 mutations that …
Mutations in the KCNA1 gene, which encodes voltage-gated Kv1.1 potassium channel alpha-subunits, cause a variety of hum …
KCNA1 gain-of-function epileptic encephalopathy treated with 4-aminopyridine.
Müller P, Takacs DS, Hedrich UBS, Coorg R, Masters L, Glinton KE, Dai H, Cokley JA, Riviello JJ, Lerche H, Cooper EC. Müller P, et al. Ann Clin Transl Neurol. 2023 Apr;10(4):656-663. doi: 10.1002/acn3.51742. Epub 2023 Feb 15. Ann Clin Transl Neurol. 2023. PMID: 36793218 Free PMC article.
Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the voltage-gated K(+) channel subunit K(V) 1.1. So far, loss-of-function variants in KCNA1 have been associated with episodic ataxia type 1 or epilepsy. ...
Exome sequencing revealed the de novo variant p.(Leu296Phe) in the gene KCNA1, encoding the voltage-gated K(+) channel subunit K(V) 1 …
Generalized myokymia, or neuromyotonia, or both in dogs with or without spinocerebellar ataxia.
Vanhaesebrouck A, Van Poucke M, Stee K, Granger N, Ives E, Van Soens I, Cornelis I, Bossens K, Peelman L, Van Ham L, Bhatti SFM. Vanhaesebrouck A, et al. J Vet Intern Med. 2023 Nov-Dec;37(6):2310-2314. doi: 10.1111/jvim.16892. Epub 2023 Oct 31. J Vet Intern Med. 2023. PMID: 37905444 Free PMC article.
KCNJ10 c.627C>G and CAPN1 c.344G>A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced using DNA extracted from blood samples. ...
KCNJ10 c.627C>G and CAPN1 c.344G>A variants and the coding sequence of KCNA1, KCNA2, KCNA6, KCNJ10 and HINT1 were sequenced usi …
Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.
Amadori E, Pellino G, Bansal L, Mazzone S, Møller RS, Rubboli G, Striano P, Russo A. Amadori E, et al. Eur J Med Genet. 2022 Apr;65(4):104450. doi: 10.1016/j.ejmg.2022.104450. Epub 2022 Feb 24. Eur J Med Genet. 2022. PMID: 35219921 Review.
Online Mendelian Inheritance in Man (OMIM) was used to identify further reports relevant to each gene. RESULTS: Among the various forms of EAs, only EA1 (KCNA1), EA2 (CACNA1A), EA5 (CACNB4), EA6 (SLC1A3), and EA9 (SCN2A) phenotypes with associated epilepsy have been descri …
Online Mendelian Inheritance in Man (OMIM) was used to identify further reports relevant to each gene. RESULTS: Among the various forms of E …
De novo variants in KCNA3 cause developmental and epileptic encephalopathy.
Soldovieri MV, Ambrosino P, Mosca I, Servettini I, Pietrunti F, Belperio G; KCNA3 study group; Syrbe S, Taglialatela M, Lemke JR. Soldovieri MV, et al. Ann Neurol. 2024 Feb;95(2):365-376. doi: 10.1002/ana.26826. Epub 2023 Dec 28. Ann Neurol. 2024. PMID: 37964487
OBJECTIVE: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies (DEEs). ...
OBJECTIVE: Variants in several potassium channel genes, including KCNA1 and KCNA2, cause Developmental and Epileptic Encephalopathies …
39 results