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Clinical/Scientific Notes
August 10, 2009

16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD

August 11, 2009 issue
73 (6) 479-480

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Information

Published In

Neurology®
Volume 73Number 6August 11, 2009
Pages: 479-480
PubMed: 19667324

Publication History

Published online: August 10, 2009
Published in print: August 11, 2009

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Authors

Affiliations & Disclosures

Jonathan Lipton, MD, PhD
From the Departments of Neurology (J.L., M.J.R.), Psychiatry (M.J.R.), and Radiology (M.J.R.), Children’s Hospital Boston, Harvard Medical School, Boston, MA.
Michael J. Rivkin, MD
From the Departments of Neurology (J.L., M.J.R.), Psychiatry (M.J.R.), and Radiology (M.J.R.), Children’s Hospital Boston, Harvard Medical School, Boston, MA.

Notes

Address correspondence and reprint requests to Dr. Michael J. Rivkin, Childrens Hospital Boston, Harvard Medical School, Pavilion 154, 300 Longwood Avenue, Boston, MA 02115; [email protected]

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Cited By
  1. High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson’s disease, npj Parkinson's Disease, 10, 1, (2024).https://doi.org/10.1038/s41531-024-00722-1
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  2. Episodic ataxia in child with 16p11.2 deletion including PRRT2, Parkinsonism & Related Disorders, 118, (105955), (2024).https://doi.org/10.1016/j.parkreldis.2023.105955
    Crossref
  3. The pleiotropic spectrum of proximal 16p11.2 CNVs, The American Journal of Human Genetics, (2024).https://doi.org/10.1016/j.ajhg.2024.08.015
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  4. Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features, Neurology Genetics, 8, 2, (2022)./doi/10.1212/NXG.0000000000000659
    Abstract
  5. Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome, Neuropediatrics, 53, 04, (279-282), (2022).https://doi.org/10.1055/a-1863-1798
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  6. Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia, Journal of Neurology, 269, 9, (4717-4728), (2022).https://doi.org/10.1007/s00415-022-11103-0
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  7. The contribution of CNVs to the most common aging-related neurodegenerative diseases, Aging Clinical and Experimental Research, 33, 5, (1187-1195), (2020).https://doi.org/10.1007/s40520-020-01485-4
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  8. PRRT2-related phenotypes in patients with a 16p11.2 deletion, European Journal of Medical Genetics, 62, 4, (265-269), (2019).https://doi.org/10.1016/j.ejmg.2018.08.002
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  9. PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures, International Journal of Neuroscience, 128, 8, (751-760), (2018).https://doi.org/10.1080/00207454.2017.1418345
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  10. 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability, Brain and Behavior, 8, 11, (2018).https://doi.org/10.1002/brb3.1134
    Crossref
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