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CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants

Crossref DOI link: https://doi.org/10.1186/s12920-021-01033-7

Published Online: 2021-07-15

Published Print: 2021-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Higa, Leigh Ann

Wardley, Jennifer

Wardley, Christopher

Singh, Susan

Foster, Timothy

Shen, Joseph J. http://orcid.org/0000-0002-5604-7639
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Text and Data Mining valid from 2021-07-15

Version of Record valid from 2021-07-15
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Article History

Received: 15 March 2021

Accepted: 1 July 2021

First Online: 15 July 2021

Declaration

:

: This research study was conducted in accordance with the Declaration of Helsinki, and approved by the Institutional Review Board (IRB) of Community Regional Medical Center (CRMC). Written informed consent for participation and all forms of personally identifiable data, including biochemical, clinical and biometric data was obtained for all patients; for patients under the age of 16, written informed consent was obtained from their parents or legal guardians.

: Written informed consent for publication of identifying images or other personal or clinical details was obtained from all of the participants. For participants under the age of 18, written informed consent for publication of identifying images or other personal or clinical details was obtained from their parents or legal guardians.

: The authors declare that they have no competing interests.

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