ArticleCerebellum (London, England)2013
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
Article in Cerebellum (London, England), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Cerebellar ataxia in the Philippines: a scoping review of reported cases and practical approach.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Epilepsy as the symptom of a spinocerebellar ataxia 13 in a patient presenting with a mutation in the KCNC3 gene.BMC neurology · 2023Article
- Towards Zebrafish Models of CNS Channelopathies.International journal of molecular sciences · 2022Review
- MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias.Tomography (Ann Arbor, Mich.) · 2022Review
- Spinocerebellar ataxias (SCAs) caused by common mutations.Neurogenetics · 2021Review
- Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.Human molecular genetics · 2020Article
- Article
- Spatial Mechanisms for Segregation of Competing Sounds, and a Breakdown in Spatial Hearing.Frontiers in neuroscience · 2020Review
- Epilepsy in spinocerebellar ataxia type 8: a case report.Journal of medical case reports · 2019Article
- Article
- Rare neurological channelopathies--networks to study patients, pathogenesis and treatment.Nature reviews. Neurology · 2016Review
- New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3).European journal of human genetics : EJHG · 2015Article
- Exome sequencing in undiagnosed inherited and sporadic ataxias.Brain : a journal of neurology · 2015Article
- KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.Neurobiology of disease · 2014Article
- Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.PloS one · 2013Article
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7 authors.
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Abstract
The p.Arg420His allelic form of spinocerebellar ataxia type 13 has been reported in a large Filipino kindred, as well as three European index cases, one with an affected offspring. Haplotype analysis has confirmed independent mutational events. All individuals share adult-onset, predominantly cerebellar signs and a slowly progressive course. However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His). In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.
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