معرفی
Professor Andreas Brunklaus is a Senior Clinical Research Fellow at the University of Glasgow, specializing in neurology and pediatric neurodevelopmental disorders. His research focuses on understanding the genetic and clinical aspects of epilepsy syndromes, particularly Dravet syndrome and SCN1A-related epilepsies. He leads studies investigating genotype-phenotype correlations, comorbidities, and quality of life impacts in patients with these conditions.
Key areas of investigation include the molecular mechanisms underlying sodium channelopathies, the psychosocial burdens faced by caregivers, and the development of precision therapies. His work combines genomic analyses with clinical data to inform diagnostic approaches and therapeutic strategies. Active collaborations with international teams enhance his research impact.
Brunklaus has secured grants from organizations such as Biocodex and the UK Office of the Chief Scientific Adviser, supporting natural history studies of SCN1A-related epilepsy. His publications emphasize longitudinal patient outcomes, epilepsy classification advancements, and the identification of genetic modifiers influencing disease severity.
Notable contributions include refuting SCN9A's role as an epilepsy gene, analyzing autism comorbidity in Dravet syndrome, and developing predictive models for early epilepsy diagnosis. These efforts aim to improve care pathways and patient management strategies for rare neurological disorders.
