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Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A

Imbrici, P; Eunson, LH; Graves, TD; Bhatia, KP; Wadia, NH; Kullmann, DM; Hanna, MG; (2005) Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. NEUROLOGY , 65 (6) 944 - 946.

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Abstract

Episodic ataxia type 2 (EA2) is caused by calcium channel (CACNA1A) mutations and typically begins before age 20 years. The molecular basis of late-onset EA2 is unclear. The authors describe a case of late-onset EA2 associated with the first multiple-base pair insertion in CACNA1A. Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2.

Type: Article
Title: Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A
Keywords: FAMILIAL HEMIPLEGIC MIGRAINE, SPINOCEREBELLAR ATAXIA, CEREBELLAR-ATAXIA, CLINICAL SPECTRUM, MUTATION
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/136294
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