The DOI matches its Crossref record; 56 of the 56 references it cites were found in a registry or an index.
Primary episodic ataxias: diagnosis, pathogenesis and treatment
Abstract
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the best characterized and account for the majority of identified cases of episodic ataxia. We summarize current knowledge of clinical and genetic diagnosis, genotype-phenotype correlations, pathophysiology and treatment of episodic ataxia syndromes. We focus on unresolved issues including phenotypic and genetic heterogeneity, lessons from animal models and technological advancement, rationale and feasibility of various treatment strategies, and shared mechanisms underlying episodic ataxia and other far more prevalent paroxysmal conditions such as epilepsy and migraine.
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Primary structure and functional expression from complementary DNA of a brain calcium channel
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Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome
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Absence Epilepsy in Tottering Mutant Mice Is Associated with Calcium Channel Defects
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Deletion of the KV1.1 Potassium Channel Causes Epilepsy in Mice
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Cited by
Magnesium in man: implications for health and disease
de Baaij, J. H. F., Hoenderop, J. G. J., & Bindels, R. J. M. (2015) · Physiological Reviews · doi:10.1152/physrev.00012.2014 · Cited by 1,726
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aay6848 · Cited by 140
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia
Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-015-7984-0 · Cited by 95
Metadata
- Authors
- Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., & the CINCH investigators
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2007-10-01
- Volume
- 130
- Issue
- 10
- Pages
- 2484-2493
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- OpenAlex
- W1977497371
- Cited by
- 374
- References
- 56
- FWCI
- 14.74
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Primary episodic ataxias: diagnosis, pathogenesis and treatment. https://app.cochat.ai/papers/10.1093/brain/awm126
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- Jen, J. C., Graves, T. D., Hess, E. J., Hanna, M. G., Griggs, R. C., Baloh, R. W., & the CINCH investigators. (2007). Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. https://doi.org/10.1093/brain/awm126
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
