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Shetty, K. and Sarma, A.S. and Devan, Meera and Dalal, Ashwin and Dash, G.K. and Jannabhatla, A. and Patil, S.J. (2020) Recurrent <i>ADCY5</i> Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment. Journal of Movement Disorders, 13 (3). pp. 238-240. ISSN 2005-940X

J Mov Dis 13 p238.pdf

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This is the first Indian report of a mosaic common pathogenic variation in the ADCY5 gene causing purely nocturnal PxD, and it is the first case in which serial VEEG quantified dramatic improvement in nocturnal dyskinesia through caffeine therapy.

Item Type: Article
Additional Information: This item is in Open Access from the Publisher
Subjects: Genetics
Depositing User: Dr P. Divakar
Date Deposited: 01 Aug 2020 21:05
Last Modified: 10 Nov 2020 18:58
URI: http://cdfd.sciencecentral.in/id/eprint/964

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