Closed
Targeted gene/syndrome under study:
OMIM # 617140 / SYNDROME ZTTKS
Abstract
We are looking for observations of patients carrying deletion, nonsense or frameshift variants of the SON gene, responsible for ZTTK syndrome, in order to better describe epileptic and/or migraine phenotypes, with if possible EEG and imaging datas.
Coordinating clinicians
Roseline Caumes – roseline.caumes@chu-lille.fr
Institution
Service de génétique clinique, CHU Lille, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No