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Experimental Neurology, ISSN 0014-4886, 11/2014, Volume 261, pp. 553 - 562
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 10/2017, Volume 106, pp. 110 - 123
Journal Article
International Journal of Neuroscience, ISSN 0020-7454, 02/2019, Volume 129, Issue 2, pp. 103 - 109
Purpose: To report the clinical features and gene mutations in four episodic ataxia type 2 (EA2) patients whose main presentation was recurrent... 
CACNA1A | dizziness | type 2 | genetic testing | drug | episodic ataxia | MUTATION | DISORDERS | NEUROSCIENCES
Journal Article
BMC NEUROLOGY, ISSN 1471-2377, 10/2019, Volume 19, Issue 1, pp. 1 - 3
Background To describe a patient with sleep alleviated episodic ataxia type 2 with a novel CACNA1A pathogenic variant and provide a possible link to sleep... 
DIAGNOSIS | Sleep | Channelopathy | Episodic ataxia type 2 | Hemiplegic migraine | Acetazolamide | Q calcium channel | CLINICAL NEUROLOGY | P/Q calcium channel
Journal Article
Journal Article
Frontiers in Neurology, ISSN 1664-2295, 2011, Volume SEP, p. 51
Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. EA type 2 (EA2), the most common and... 
CACNA1A | Episodic ataxia | Mutation | Genomic rearrangement | EA2 | genomic rearrangement | episodic ataxia
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 03/2016, Volume 4, Issue 2, pp. 211 - 222
Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and... 
episodic ataxia type 2 | CACNA1A | AmpliSeq custom panel | next‐generation sequencing | CHANNEL | next-generation sequencing | GENETICS & HEREDITY | ACETAZOLAMIDE | SPECTRUM | FAMILIAL HEMIPLEGIC MIGRAINE | Ataxia | Genes | Mutation
Journal Article
SAGE Open Medical Case Reports, ISSN 2050-313X, 5/2017, Volume 5, p. 2050313X17706044
Background: Episodic ataxia type 2 (OMIM 108500) is an autosomal dominant channelopathy characterized by paroxysms of ataxia, vertigo, nausea, and other... 
Journal Article
Journal Article