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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 1
2004 1
2005 1
2006 2
2007 1
2008 1
2010 1
2012 2
2013 3
2014 1
2015 2
2016 2
2017 2
2018 1
2019 1
2020 4
2022 2
2023 3
2024 0

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28 results

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Page 1
Acetazolamide-responsive ataxia.
Kotagal V. Kotagal V. Semin Neurol. 2012 Nov;32(5):533-7. doi: 10.1055/s-0033-1334475. Epub 2013 May 15. Semin Neurol. 2012. PMID: 23677664 Review.
Among all of the subtypes of episodic ataxia, types 2 (EA2), 3 (EA3), and 5 (EA5) are thought be the most medication responsive. Some patients with episodic ataxia type 1 (EA1) will also describe improvement with acetazolamide. ...
Among all of the subtypes of episodic ataxia, types 2 (EA2), 3 (EA3), and 5 (EA5) are thought be the most medication responsive. Some patien …
Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.
Nielsen EN, Ásbjörnsdóttir B, Møller LB, Nielsen JE, Lindquist SG. Nielsen EN, et al. Cold Spring Harb Mol Case Stud. 2022 Oct 28;8(6):a006236. doi: 10.1101/mcs.a006236. Print 2022 Oct. Cold Spring Harb Mol Case Stud. 2022. PMID: 36307210 Free PMC article.
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. ...
Episodic ataxia type 1 and 2 (EA1 and EA2) are the most well-described of the episodic ataxias. ...
Episodic ataxias 1 and 2.
Baloh RW. Baloh RW. Handb Clin Neurol. 2012;103:595-602. doi: 10.1016/B978-0-444-51892-7.00042-5. Handb Clin Neurol. 2012. PMID: 21827920 Review.
The episodic ataxias are autosomal dominant disorders usually beginning in the first two decades of life. Episodic ataxia type 1 (EA1) is characterized by brief episodes of ataxia, typically lasting seconds, and interictal myokymia, while episodic atax …
The episodic ataxias are autosomal dominant disorders usually beginning in the first two decades of life. Episodic ataxia t …
Episodic Ataxia Type 1: Natural History and Effect on Quality of Life.
Graves TD, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Graves TD, et al. Cerebellum. 2023 Aug;22(4):578-586. doi: 10.1007/s12311-021-01360-6. Epub 2022 Jun 3. Cerebellum. 2023. PMID: 35655106 Free PMC article.
Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in KCNA1. ...
Episodic ataxia type 1 (EA1) is a rare autosomal potassium channelopathy, due to mutations in KCNA1. ...
Episodic ataxia and channelopathies.
Gordon N. Gordon N. Brain Dev. 1998 Jan;20(1):9-13. doi: 10.1016/s0387-7604(97)00086-7. Brain Dev. 1998. PMID: 9533553 Review.
Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with in …
Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usual …
Phenotypes, genotypes, and the management of paroxysmal movement disorders.
Silveira-Moriyama L, Kovac S, Kurian MA, Houlden H, Lees AJ, Walker MC, Roze E, Paciorkowski AR, Mink JW, Warner TT. Silveira-Moriyama L, et al. Dev Med Child Neurol. 2018 Jun;60(6):559-565. doi: 10.1111/dmcn.13744. Epub 2018 Mar 30. Dev Med Child Neurol. 2018. PMID: 29600549 Free article. Review.
Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypic …
Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesig …
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.
Kv1.1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the central and peripheral nervous systems. KCNA1 is the only gene that has been associated with episodic ataxia type 1 …
Kv1.1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the c …
Genetics of dizziness: cerebellar and vestibular disorders.
Requena T, Espinosa-Sanchez JM, Lopez-Escamez JA. Requena T, et al. Curr Opin Neurol. 2014 Feb;27(1):98-104. doi: 10.1097/WCO.0000000000000053. Curr Opin Neurol. 2014. PMID: 24275721 Review.
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively. Moreover, new variants in genes such as COCH, MYO7A and POU4F3 are associated with nonsyndromic deafness and vestibular dysfunction. ...
Novel mutations in KCNA1 and CACNA1A genes are associated with episodic ataxia type 1 and type 2, respectively. …
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.
KCNA1 mutations are primarily associated with a rare neurological movement disorder known as episodic ataxia type 1 (EA1). However, some patients have EA1 in combination with epilepsy, whereas others have epilepsy alone. ...
KCNA1 mutations are primarily associated with a rare neurological movement disorder known as episodic ataxia type 1 …
Paroxysmal movement disorders and episodic ataxias.
Fernández-Alvarez E, Perez-Dueñas B. Fernández-Alvarez E, et al. Handb Clin Neurol. 2013;112:847-52. doi: 10.1016/B978-0-444-52910-7.00004-0. Handb Clin Neurol. 2013. PMID: 23622292 Review.
Between attacks, palpebral and hand muscle myokymia is often seen in episodic ataxia type 1 (EA1). In episodic ataxia type 2 (EA2) interictal nystagmus is usually present. ...
Between attacks, palpebral and hand muscle myokymia is often seen in episodic ataxia type 1 (EA1). In episodic a …
28 results