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. 2020 Aug;13(3):238-240.
doi: 10.14802/jmd.20014. Epub 2020 Jul 28.

Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment

Kuldeep Shetty  1 , Asodu Sandeep Sarma  2 , Meera Devan  2 , Ashwin Dalal  2 , Gopal Krishna Dash  1 , Apuroopa Jannabhatla  1 , Siddaramappa Jagadish Patil  3
Affiliations

Recurrent ADCY5 Mutation in Mosaic Form with Nocturnal Paroxysmal Dyskinesias and Video Electroencephalography Documentation of Dramatic Response to Caffeine Treatment

Kuldeep Shetty et al. J Mov Disord. 2020 Aug.
No abstract available

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Conflict of interest statement

Conflicts of Interest

The authors have no financial conflicts of interest.

Figures

Figure 1.
Figure 1.
Exome and Sanger sequencing for p.R418W variant in ADCY5 gene. A: Sequences in Integrated Genomics Viewer (IGV) show mosaic variation c.1252C > T (since the gene is in reverse orientation, the variant seen is G > A). The reference sequence shows G (black arrow), and the multiple sequence fragments obtained by next generation sequencing show G in most of the reads and A (red arrow) in few reads, suggesting mosaicism for the G > A variation. B: Sanger sequencing of variant c.1252C > T shows a small peak of T allele (black arrows) in blood DNA and skin DNA in the proband, whereas both parents were shown to be homozygous for wildtype allele C.
See this image and copyright information in PMC

References

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