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episodic ataxia
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References
These sources were used to develop the Genetics Home Reference
condition summary
on episodic ataxia.
Cader MZ, Steckley JL, Dyment DA, McLachlan RS, Ebers GC. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology. 2005 Jul 12;65(1):156-8.
PubMed citation
Damji KF, Allingham RR, Pollock SC, Small K, Lewis KE, Stajich JM, Yamaoka LH, Vance JM, Pericak-Vance MA. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol. 1996 Apr;53(4):338-44. Review.
PubMed citation
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. Epub 2000 Apr 4.
PubMed citation
Gene Review: Episodic Ataxia Type
2
Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22.
PubMed citation
Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCH investigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007 Oct;130(Pt 10):2484-93. Epub 2007 Jun 15. Review.
PubMed citation
Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005 Aug 23;65(4):529-34.
PubMed citation
Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW. A new episodic ataxia syndrome with linkage to chromosome 19q13. Arch Neurol. 2007 May;64(5):749-52.
PubMed citation
Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: a neuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66. Review.
PubMed citation
Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology. 2001 Oct 23;57(8):1499-502.
PubMed citation
Strupp M, Zwergal A, Brandt T. Episodic ataxia type 2. Neurotherapeutics. 2007 Apr;4(2):267-73. Review.
PubMed citation
Reviewed: August 2008
Published: February 6, 2009