ArticlePloS one2013
Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Pooled it
- Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature.Cerebellum (London, England) · 2026Review
- CDHu40: a novel marker gene set of neuroendocrine prostate cancer.Briefings in bioinformatics · 2024Article
- CACNA1A-Related Channelopathies: Clinical Manifestations and Treatment Options.Handbook of experimental pharmacology · 2023Review
- Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia.Cold Spring Harbor molecular case studies · 2022Article
- Clinical features andZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2022Article
- From Genotype to Phenotype: Expanding the Clinical Spectrum ofFrontiers in neurology · 2021Review
- Genetics and the Individualized Therapy of Vestibular Disorders.Frontiers in neurology · 2021Review
- Exploring the Hereditary Nature of Migraine.Neuropsychiatric disease and treatment · 2021Review
- Involvement of the Peripheral Nervous System in Episodic Ataxias.Biomedicines · 2020Review
- Advances in genetics of migraine.The journal of headache and pain · 2019Review
- Genetic Variants Associated with Episodic Ataxia in Korea.Scientific reports · 2017Article
- Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.Cerebellum (London, England) · 2017Article
- Dystonia and cerebellar degeneration in the leaner mouse mutant.Brain research · 2015Article
- The Clinical Spectrum of Autosomal-Dominant Episodic Ataxias.Movement disorders clinical practice · 2014Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type 2 episodic ataxia (EA2) is the most common subtype among a group of rare hereditary syndromes characterized by recurrent attacks of ataxia. More than 60 mutations and several gene rearrangements due to large deletions in CACNA1A gene have been reported so far for the cause of EA2. Because CACNA1A gene is a large gene containing 47 exons and there is no hot spot mutation, direct sequencing will be a challenge in clinical genetic testing. In this study, we used next generation sequencing technology to identify a novel nonsense mutation of CACNA1A (p.Tyr1957Ter, NP_001120693.1) resulting in truncated protein without 305 amino acids in the c-terminus. Sanger sequencing confirmed the heterozygous mutation of CACNA1A in a Chinese family with 11 affected individuals. Affected individuals experienced recurrent attacks with or without nystagmus, dysarthria, seizure, myokymia, dystonia, weakness, blurred vision, visual field defects, diplopia, migraine, dizziness, nausea and vomiting, sweating and abdominal pain. This is the first report of EA2 in a Chinese family that carries a novel mutation in CACNA1A gene and had abdominal pain as a novel phenotype associated with EA2.
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