In an international study co-led by Dr Efthymiou and Professor Houlden at UCL Queen Square Institute of Neurology in collaboration with Rutgers University, novel genetic insights into ABCC9-related intellectual disability and myopathy syndrome (AIMS) have been unveiled.
This study published in Brain has significantly expanded our understanding of AIMS by identifying new genetic variants and delineating the disease’s phenotype associated with potassium channel dysfunction.