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Developmental Regression and Movement Disorder as a Phenotypic Variant of POLR3A Mutation - Case Report
  • Ali Nikkhah,
  • Sepideh Rezakhani
Ali Nikkhah
Pediatrics Neurology Research Center, Research Institute for Children Health, Shahid Beheshti University of Medical Sciences

Corresponding Author:[email protected]

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Sepideh Rezakhani
Shahid Beheshti University of Medical Sciences
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Abstract

POLR3A is a main subunit encoding RNA polymerase III which is involved in transcription of many RNA structures. Here we report a new presentation of c.1771-6C>G intronic variant presenting as developmental regression, seizure and dystonia in a 6-year-old boy associated with striatum involvement in the brain MRI.
20 May 2022Submitted to Clinical Case Reports
19 Jul 2022Submission Checks Completed
19 Jul 2022Assigned to Editor
28 Jul 2022Reviewer(s) Assigned
18 Aug 2022Review(s) Completed, Editorial Evaluation Pending
18 Aug 2022Editorial Decision: Revise Minor
01 Oct 20221st Revision Received
05 Oct 2022Submission Checks Completed
05 Oct 2022Assigned to Editor
05 Oct 2022Review(s) Completed, Editorial Evaluation Pending
15 Oct 2022Editorial Decision: Accept
Nov 2022Published in Clinical Case Reports volume 10 issue 11. 10.1002/ccr3.6556