Gene/phenotype/disorder under study
CACNA1A (617106 and 108500)
Abstract
We propose you to join the CACNA1A network, which aims to identify genetic modifiers explaining the wide spectrum of CACNA1A-related disorders.
The initial phase focuses on building a large cohort of individuals with CACNA1A variants for a comprehensive genotype-phenotype analysis (500 patients now included).
Patients with recurrent groups of variants associated with clinical heterogeneity will then be selected for genome sequencing at Paris Brain Institute or at your centre to perform association studies to identify genetic modifiers of the phenotype.
Inclusion criteria:
All individuals:
• Presenting a phenotype consistent with CACNA1A-related neurogenetic disorders, excluding individuals presenting with pure familial hemiplegic migraine
AND
• Carrying a CACNA1A variant classified as pathogenic (class V), likely pathogenic (class IV) or of uncertain significance (VUS, class III) with strong clinical suspicion, excluding CAG-repeat expansions associated with SCA6.
Coordinating clinicians
Giulia COARELLI – Giulia giulia.coarelli@icm-institute.org
Charlotte MOURAUX – charlotte.mouraux@icm-institute.org
Institution
Paris Brain Institute, Pitié-Salpêtrière Hospital, Paris, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: : Yes
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes