Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Translations
    • Topics A-Z
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Education
    • Genetics
    • Neuroimmunology & Neuroinflammation
  • Online Sections
    • Neurology Video Journal Club
    • Diversity, Equity, & Inclusion (DEI)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Translations
    • Topics A-Z
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit New Manuscript
    • Submit Revised Manuscript
    • Author Center
  • Home
  • Articles
  • Issues

User menu

  • My Alerts
  • Log in

Search

  • Advanced search
Neurology Genetics
Home
A peer-reviewed clinical and translational neurology open access journal
  • My Alerts
  • Log in
Site Logo
  • Home
  • Articles
  • Issues

Share

February 2021; 7 (1) Clinical/Scientific NotesOpen Access

Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome

Keisuke Ueda, Marwan Shinawi, View ORCID ProfileToni S. Pearson
First published January 11, 2021, DOI: https://doi.org/10.1212/NXG.0000000000000549
Keisuke Ueda
From the Department of Neurology (K.U., T.S.P.), and Division Genetics and Genomic Medicine (M.S.), Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: uk.kei.ueda@gmail.com
Marwan Shinawi
From the Department of Neurology (K.U., T.S.P.), and Division Genetics and Genomic Medicine (M.S.), Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: mshinawi@wustl.edu
Toni S. Pearson
From the Department of Neurology (K.U., T.S.P.), and Division Genetics and Genomic Medicine (M.S.), Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Toni S. Pearson
Full PDF
Citation
Paroxysmal Kinesigenic Dyskinesia in Twins With Chromosome 16p11.2 Duplication Syndrome
Keisuke Ueda, Marwan Shinawi, Toni S. Pearson
Neurol Genet Feb 2021, 7 (1) e549; DOI: 10.1212/NXG.0000000000000549

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
322

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

Article Figures & Data

Figures

  • Tables
  • Supplementary Materials
  • Figure
    • Download figure
    • Open in new tab
    • Download powerpoint
    Figure Duplication Map of 16p11.2

    Schematic representation of the duplicated 16p11.2 region using the University of California Santa Cruz Genome Browser (genome.ucsc.edu/). Top: a red rectangle indicates the duplicated region on the chromosome ideogram of 16p11.2. Bottom: a detailed map of the duplicated region, flanked by 2 blue lines, illustrates affected genomic coordinates and locations of Online Mendelian Inheritance in Man genes. Dark green boxes indicate disease-causing genes (e.g., PRRT2) for which the molecular basis of the disorder is known.

Tables

  • Figures
  • Supplementary Materials
  • Table1

Supplementary Materials

  • Figures
  • Tables
  • Video 1

    In the initial scene our patient, age 5 years, is observed during an episode of paroxysmal kinesigenic dyskinesia. He has dystonia of the right arm and leg, mild athetosis of the trunk and both arms, and mild dysarthria. The episode abruptly resolves at 00:16. The second scene (00:18) demonstrates his usual baseline gait, with absent involuntary movements.Download Supplementary Video 1 via http://dx.doi.org/10.1212/000549_Video_1

Letters: Rapid online correspondence

No comments have been published for this article.
Comment

REQUIREMENTS

If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org

Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.

If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.

Submission specifications:

  • Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
  • Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
  • Submit only on articles published within 6 months of issue date.
  • Do not be redundant. Read any comments already posted on the article prior to submission.
  • Submitted comments are subject to editing and editor review prior to posting.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Case
    • Discussion
    • Study Funding
    • Disclosure
    • Appendix Authors
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

SARS-CoV-2 Vaccination Safety in Guillain-Barré Syndrome, Chronic Inflammatory Demyelinating Polyneuropathy, and Multifocal Motor Neuropathy

Dr. Jeffrey Allen and Dr. Nicholas Purcell

► Watch

Related Articles

  • No related articles found.

Topics Discussed

  • All Genetics
  • Motor Control
  • Chromosomes

Alert Me

  • Alert me when eletters are published

Recommended articles

  • Articles
    PRRT2 mutations
    A major cause of paroxysmal kinesigenic dyskinesia in the European population
    Aurélie Méneret, David Grabli, Christel Depienne et al.
    Neurology, June 27, 2012
  • Articles
    PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions
    Rianne van Vliet, Guido Breedveld, Johanneke de Rijk-van Andel et al.
    Neurology, August 08, 2012
  • Resident and Fellow Section
    Child Neurology: PRRT2-associated movement disorders and differential diagnoses
    Darius Ebrahimi-Fakhari, Keun-Sun Kang, Urania Kotzaeridou et al.
    Neurology, October 27, 2014
  • Article
    PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
    Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf et al.
    Neurology, October 17, 2012
Neurology Genetics: 9 (2)

Articles

  • Articles
  • Issues
  • Popular Articles

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Education
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology: Genetics | Online ISSN: 2376-7839

© 2023 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise