Published March 24, 2021
| Version v1
Dataset
Restricted
dataset related to article "SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus"
Authors/Creators
- 1. Fondazione IRCCS - Istituto Neurologico Carlo Besta di Milano
Description
We describe a 25 year-old woman, carrying a splicing mutation in the SCN8A gene, whose clinical picture was characterized by action myoclonus and moderate intellectual disability
Notes
Study supported by Italian Ministry of Health - Program GR-2016-02363337
Files
Restricted
The record is publicly accessible, but files are restricted. Log in to check if you have access.
Request access
If you would like to request access to these files, please fill out the form below.
You need to satisfy these conditions in order for this request to be accepted:
Users must clarify how they intend to use data here uploaded
You are currently not logged in. Do you have an account? Log in here
Additional details
Related works
- Is supplement to
- Journal article: 10.1016/j.seizure.2020.09.011 (DOI)