Study uncovers crucial insights in Ultra-Rare Genetic Syndrome Tied to Potassium Channel Dysfunction

March 18, 2024 • UCL QUEEN SQUARE INSTITUTE OF NEUROLOGYHome
Dr. McClenaghan, Dr Efthymiou and Professor Houlden

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.

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