Targeted syndrome under study:
GPI-anchoring disorders due to X-linked PIGA or biallelic PIGB-, PIGC-, PIGF-, PIGG-, PIGH-, PIGP-, PIGQ-, PIGL-, PIGK-, PIGM-, PIGN-, PIGO-, PIGS-, PIGT-, PIGU-, PIGV-, PIGX-, GPAA1-, PGAP1-, PGAP2-, PGAP3-, or PGAP5-related disorders.
Abstract
Over the past few years, many of you have collaborated with us in exploring various aspects of the PIG genes (such as PIGA, PIGN, PIGT, PIGV, and others). We are excited to inform you that we have now launched a large-scale study to delve deeper into these glycosylation disorders. We are currently seeking patients (both published and unpublished) with genetically confirmed diagnoses related to PIG genes, including PIGA, PIGB, PIGC, PIGF, PIGG, PIGH,
PIGP, PIGQ, PIGL, PIGK, PIGM, PIGN, PIGO, PIGS, PIGT, PIGU, PIGV, PIGX, GPAA1, PGAP1, PGAP2, PGAP3, or PGAP5.
The aim is to collect cross-sectional and longitudinal clinical data from patients with genetically confirmed diagnoses related to any of the above-mentioned genes.
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)