Submission Details

Submitter:

Classification:
Definitive
GENCC:100001
Gene:
Disease:
developmental and epileptic encephalopathy, 7
Developmental and epileptic encephalopathy 7
Mode Of Inheritance:
Autosomal dominant
Evaluated Date:
03/14/2025
PubMed IDs:
22275249 12742592 31951342 31418850 31199083 31152295 30530441 30107960 29687029 28832002 28728838 28687180 28631195 27861786 27602407 25880994 25566516 25092550 24371303 24107868 23774309 23692823 23621294 22926866 22169383 15249611
Public Report:
Assertion Criteria:
Submitter Submitted Date:
07/02/2025

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.