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Defining the genetic determinants for epilepsy

49 months
Approved budget:
Professor Lynette Sadleir
Health issue:
Neurological (CNS)
Proposal type:
Lay summary
Epilepsy is a common group of disorders which significantly impact a child's quality of life. In 30% of children it continues into adult life, is frequently accompanied by cognitive impairment, and can cause death. Many epilepsies have a direct genetic cause, while others result from brain malformations which may themselves have a genetic origin. We will study families with multiple individuals with epilepsy as well as individuals with brain malformations. We aim to identify new epilepsy syndromes and the genes responsible. In children with brain malformations, molecular genetic techniques will be used to identify the genes. In families with epilepsy, all family members will be interviewed to characterise their epilepsy, a family tree constructed and a DNA sample taken. New epilepsy syndromes may be identified and described. Large families will be analysed by molecular genetic collaborators to identify epilepsy genes. This work will lead to improved diagnosis, therapy, prognosis, and genetic counselling.