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Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7

Crossref DOI link: https://doi.org/10.1186/s12881-018-0643-4

Published Online: 2018-07-23

Published Print: 2018-12

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

Authors

He, Wen https://orcid.org/0000-0003-0900-6997
Young, Gareth T.

Zhang, Baohong

Cox, Peter J.

Cho, Lily Ting-Yin

John, Sally

Paciga, Sara A.

Wood, Linda S.

Danziger, Nicolas

Scollen, Serena

Vangjeli, Ciara
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Article History

Received: 2 February 2018

Accepted: 12 July 2018

First Online: 23 July 2018

Ethics approval and consent to participate

: The Ethics Committee of Pitié-Salpêtrière Hospital, Paris, France approved this study (IDF VI, CPP session number 102-09, approval number: 2009-A 01277-50). Written informed consent was given by all subjects aged 18 and above. For subjects under 18 years old, the parents’ informed consent was obtained in addition to the subject’s assent.

: The participants gave permission for details of their medical history to be published.

: GTY, WH, BZ, PJC, LTYC, SJ, SAP, LSW, SS and CV are current or past employees of Pfizer Ltd./Inc.

: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.