Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

1996
2025

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
2023 1
2024 1
2025 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Search Results

18 results

Results by year

Filters applied: . Clear all
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). ...Our descr
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. ...Channelopathies can also lead to ataxia, especially episodic ataxia. Although phenotypic characteristics are an aid t …
There are many causes of hereditary ataxia. These can be grouped into categories of autosomal recessive, autosomal dominant, and X-li …
[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. ...No mutation can be detected in some familial cases of episodic ataxia, suggesting furthe …
INTRODUCTION: Episodic ataxia (EA) designates a group of autosomal dominant channelopathies that manifest as paroxysmal attack …
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.
These include acquired neuromyotonia, episodic ataxia type-1, hereditary deafness syndromes, benign familial neonatal convulsions and hypokalaemic periodic paralysis. ...
These include acquired neuromyotonia, episodic ataxia type-1, hereditary deafness syndromes, benign familial neonatal c …
Diagnostic Yield of NGS Tests for Hereditary Ataxia: a Systematic Review.
Tenorio RB, Camargo CHF, Donis KC, Almeida CCB, Teive HAG. Tenorio RB, et al. Cerebellum. 2024 Aug;23(4):1552-1565. doi: 10.1007/s12311-023-01629-y. Epub 2023 Nov 11. Cerebellum. 2024. PMID: 37950147
Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. …
Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical …
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. A relatively smaller family of 8 members compose the EAs. ...There is emerging evidence that the pathogenesis of hereditary ataxias may be caused by imbalances in intr …
The largest family of hereditary ataxias is SCAs which consists of a growing family of 42 members. A relatively smaller family of 8 m …
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
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
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 …
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
18 results