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December 2020; 6 (6) Clinical/Scientific NotesOpen Access

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

Yuji Sugawara, Tomoko Mizuno, Kengo Moriyama, Hisako Ishiwata, Mitsuhiro Kato, Mitsuko Nakashima, Takeshi Mizuguchi, Naomichi Matsumoto
First published October 8, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000527
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Developmental and epileptic encephalopathy (DEE) is a spectrum of neurodevelopmental conditions in which psychomotor delay or regression arises in association with frequent epileptic activity. In the past decade, molecular genetics studies showed that DEE is caused by environmental insults and by genetic factors; several de novo pathogenic variants were also identified.1

Acknowledgment

The authors are indebted to the patient and her parents. The authors would also like to thank Enago (enago.jp) for the English language review.

Footnotes

  • Go to Neurology.org/NG for full disclosures. Funding information is provided at the end of the article.

  • The Article Processing Charge was funded by the authors.

  • Ethics: The study protocol was approved by the institutional review board of the Faculty of Medicine, Yokohama City University, Japan. Written informed consent was obtained from the parents for the publication of this case report as per the hospital guidelines.

  • Received June 19, 2020.
  • Accepted in final form August 31, 2020.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.

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