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Webinar - Incidence phenotypes and outcomes of epilepsy under 3 years of ag...

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Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene epilepsies will aid in targeting resources, the prioritization of diagnostic testing and development of precision therapy.

Previous studies of genetic testing in epilepsy have not been prospective and population-based. Therefore, the population-incidence of common genetic epilepsies remains unknown. A research study was conducted on Scotland to describe the incidence and phenotypic spectrum of the most common single-gene epilepsies in young children, and to calculate what proportion are amenable to precision therapy. This was a prospective national epidemiological cohort study. All children presenting with epilepsy before 36 months of age were eligible. Children presenting with recurrent prolonged (>10 min) febrile seizures; febrile or afebrile status epilepticus (>30 min); or with clusters of two or more febrile or afebrile seizures within a 24-h period were also eligible. Participants were recruited from all 20 regional paediatric departments and four tertiary children's hospitals in Scotland over a 3-year period. DNA samples were tested on a custom-designed 104-gene epilepsy panel. Detailed clinical information was systematically gathered at initial presentation and during follow-up. Clinical and genetic data were reviewed by a multidisciplinary team of clinicians and genetic scientists. The pathogenic significance of the genetic variants was assessed in accordance with the guidelines of UK Association of Clinical Genetic Science (ACGS).

The speaker, Dr Joseph Symonds graduated from the University of Dundee in 2008 and also has a BSc degree in International Health from the University of Leeds (2007). He has been a trainee in paediatrics in Aberdeen, Inverness and Glasgow and is currently registered with the University of Glasgow as a PhD student. His major research interest is in the genetics of childhood onset epilepsies.

His current PhD thesis focusses on the clinical utility of genetic diagnostic techniques - including Sanger sequencing, Gene Panel testing, Chromosomal Microarray and Whole Genome Sequencing - for identifying underlying causes of epilepsy and guiding management. He has developed a specific interest in the epilepsy caused by truncation variants in the SMC1A gene and he has several ongoing projects investigating this gene. He receives research funding support from Glasgow Children's Hospital Charity and Tenovus Scotland.

Register: https://register.gotowebinar.com/register/5877015399193531916

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