Aim
Current research aims:
- To provide further characterization of the syndrome.
- To provide further evidence on the severity of the phenotype when the mutation is proximal to the RUN domain.
- To provide further evidence that the seizures in this specific gene mutation respond favourably to Clobazam.
Methods
Case reports/series and prospective studies. Functional analysis. Inclusion criteria: mental retardation, acquired microcephaly, infantile spasms, early childhood seizures, hypoplasia of corpus callosum and absence of splenium. Timeline: 2019-2022.
Expected results of ongoing research
To add the RUSC2 gene to intellectual disability panel and epilepsy panel. To provide further understanding of the syndrome.