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

Year Number of Results
1996 1
1997 1
1998 1
1999 1
2000 3
2005 1
2008 1
2011 1
2014 2
2015 1
2016 1
2017 1
2018 1
2020 1
2021 2
2022 1
2024 0

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17 results

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Page 1
Epilepsy and episodic ataxia type 2: family study and review of the literature.
Verriello L, Pauletto G, Nilo A, Lonigro I, Betto E, Valente M, Curcio F, Gigli GL. Verriello L, et al. J Neurol. 2021 Nov;268(11):4296-4302. doi: 10.1007/s00415-021-10555-0. Epub 2021 May 13. J Neurol. 2021. PMID: 33983550 Review.
Episodic ataxia type 2 (EA2) is a hereditary disorder characterized by paroxysmal attacks of ataxia, vertigo and nausea, due to mutations in the CACNA1A gene, which encodes for alpha1 subunit of the P/Q-type voltage-gated Ca(2+) channel (CaV2.1). Other manife …
Episodic ataxia type 2 (EA2) is a hereditary disorder characterized by paroxysmal attacks of ataxia, vertigo and nausea …
Hereditary ataxias.
Evidente VG, Gwinn-Hardy KA, Caviness JN, Gilman S. Evidente VG, et al. Mayo Clin Proc. 2000 May;75(5):475-90. doi: 10.4065/75.5.475. Mayo Clin Proc. 2000. PMID: 10807077 Review.
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-linked. ...In the dominant ataxias, the expanded repeats lead to a "gain of function," most likely through accumulation of intranuclear (and l …
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-li …
Hereditary episodic ataxias.
Jen JC. Jen JC. Ann N Y Acad Sci. 2008 Oct;1142:250-3. doi: 10.1196/annals.1444.016. Ann N Y Acad Sci. 2008. PMID: 18990130 Review.
Hereditary episodic ataxia (EA) syndromes are rare monogenic disorders that are phenotypically and genetically heterogeneous. ...This review summarizes recent advances and focuses on practical approaches in the diagnosis and treatment of episodic at …
Hereditary episodic ataxia (EA) syndromes are rare monogenic disorders that are phenotypically and genetically heteroge …
[Hereditary episodic ataxia].
Riant F, Vahedi K, Tournier-Lasserve E. Riant F, et al. Rev Neurol (Paris). 2011 May;167(5):401-7. doi: 10.1016/j.neurol.2010.10.016. Epub 2011 Apr 13. Rev Neurol (Paris). 2011. PMID: 21492892 Review. French.
INTRODUCTION: Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attacks of imbalance and incoordination. ...PERSPECTIVES: This article summarizes current knowledge on episodic ataxia type 1 and 2 …
INTRODUCTION: Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attack …
Keeping Our Calcium in Balance to Maintain Our Balance.
Mark MD, Schwitalla JC, Groemmke M, Herlitze S. Mark MD, et al. Biochem Biophys Res Commun. 2017 Feb 19;483(4):1040-1050. doi: 10.1016/j.bbrc.2016.07.020. Epub 2016 Jul 5. Biochem Biophys Res Commun. 2017. PMID: 27392710 Review.
The largest family of hereditary ataxias is SCAs which consists of a growing family of 42 members. ...There is emerging evidence that the pathogenesis of hereditary ataxias may be caused by imbalances in intracellular calcium due to genetic mutations in calcium-medi …
The largest family of hereditary ataxias is SCAs which consists of a growing family of 42 members. ...There is emerging evidence that …
History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration.
Berciano J, Gazulla J, Infante J. Berciano J, et al. Cerebellum. 2022 Aug;21(4):531-544. doi: 10.1007/s12311-021-01328-6. Epub 2021 Nov 3. Cerebellum. 2022. PMID: 34731448 Review.
The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and hereditary spastic paraplegias, over the last century and a half. Original descriptions of the main pathological subtypes, including Fried …
The aim of this paper is to carry out a historical overview of the evolution of the knowledge on degenerative cerebellar disorders and he …
Neurological potassium channelopathies.
Benatar M. Benatar M. QJM. 2000 Dec;93(12):787-97. doi: 10.1093/qjmed/93.12.787. QJM. 2000. PMID: 11110585 Review.
Potassium channel dysfunction has been implicated in a variety of genetic and acquired neurological disorders that are collectively referred to as the potassium channelopathies. These include acquired neuromyotonia, episodic ataxia type-1, hereditary deafness …
Potassium channel dysfunction has been implicated in a variety of genetic and acquired neurological disorders that are collectively referred …
Epidemiology of Cerebellar Diseases and Therapeutic Approaches.
Salman MS. Salman MS. Cerebellum. 2018 Feb;17(1):4-11. doi: 10.1007/s12311-017-0885-2. Cerebellum. 2018. PMID: 28940047 Review.
Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate of dominant hereditary cerebellar ataxia of 2.7/100,000, and a prevalence rate of recessive hereditary cerebellar ataxia of 3.3 …
Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate o …
Consensus paper: management of degenerative cerebellar disorders.
Ilg W, Bastian AJ, Boesch S, Burciu RG, Celnik P, Claaßen J, Feil K, Kalla R, Miyai I, Nachbauer W, Schöls L, Strupp M, Synofzik M, Teufel J, Timmann D. Ilg W, et al. Cerebellum. 2014 Apr;13(2):248-68. doi: 10.1007/s12311-013-0531-6. Cerebellum. 2014. PMID: 24222635 Free PMC article.
This is currently available only for a very small subset of cerebellar ataxias with known metabolic dysfunction. However, increasing knowledge of the pathophysiology of hereditary ataxia should lead to an increasing number of medically sensible drug trials. ...Aminopyridin …
This is currently available only for a very small subset of cerebellar ataxias with known metabolic dysfunction. However, increasing knowled …
Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo).
Brandt T, Strupp M. Brandt T, et al. Audiol Neurootol. 1997 Nov-Dec;2(6):373-83. doi: 10.1159/000259262. Audiol Neurootol. 1997. PMID: 9390841 Review.
Episodic ataxia (EA) is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. ...At least two groups of disorders have been separated clinically: (1) episodic ataxia type 1 (EA-1), which manifests with …
Episodic ataxia (EA) is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entit …
17 results