Targeted syndrome under study:
OMIM #611816 or #135500 / ORPHA #3473 or ORPHA #420561
Abstract
KCNH1 missense variants have been associated with syndromic neurodevelopmental disorders, including Zimmermann-Laband syndrome 1, Temple-Baraitser syndrome and, recently, with milder phenotypes as epilepsy.
We want to:
1. collect cross-sectional and longitudinal clinical data from patients with rare heterozygous KCNH1 variants to establish a database of high-quality genetic and clinical data sets.
2. To functionally test the effects of the KCNH1 mutations to study if the variants are pathogenic or not.
3. Establish genotype-phenotype patterns and perform pilot experiments to explore options for rescue pharmacology using existing drugs that target the KCNH1 receptor.
Coordinating clinician
Allan Bayat – abaya@filadelfia.dk or bayabayabayat@hotmail.com
Institution
Dept of Pediatrics. Danish Epilepsy Centre. Filadelfia
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: Yes
4- If available: raw EEG data (EDF) and 3D-T1-MRI sequences (DICOM)