Targeted syndrom under study
OMIN 612458, 618468
Abstract
Biallelic pathogenic variants in ACTL6B, encoding for a subunit of the nBAF complex, have been associated with a severe early infantile epileptic encephalopathy. Additionally, de novo missense mutations at specific loci have been linked to a different neurodevelopmental disorder characterized by intellectual disability and severe speech and ambulation deficits. Although the function of the protein/complex in neuronal development has been well characterized, particularly since the identification of ACTL6B as a disease gene, there is still no comprehensive study describing the phenotypic spectrum associated with ACTL6B variants and the epileptic features associated with the disorder. With this collaboration, we aim to outline the characteristics and phenotypic spectrum of ACTL6B-related disorder. We have collected clinical data, comprising pictures, MRI and EEGs, of 70 patients from 60 unrelated families, including patients from literature. We aim to perform a comprehensive analysis of the phenotypic spectrum, epileptic and neuroradiological features associated with ACTL6B variants and to differentiate between the recessive and dominant disorder.
Coordinating clinicians/researchers
Elisa Cali – e.cali@ucl.ac.uk
Institution
University College of London
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No