Abstracts

Rationale: Severe Paediatric Epileptic Encephalopathies continue to be diagnostically challenging, despite modern neuroimaging and genetic epilepsy panels. Recently a large cohort of EpiK Whole exome sequencing revealed new mutations causing this condition. The rationale for our study was to correlate the WES (whole exome sequencing) findings from our affected children with Epileptic Encephalopathies and the results the results of the EpiK project Methods: Six children with severe Early infancy or childhood epileptic encephalopathy underwent whole exome sequencing (WES) with the purpose of identify any potential genetic etiology. All tests were performed by a single genetic lab after obtaining parental consent Results: Among the tested children, all were identified to have genetic mutations as cause of their epileptic encephalopathy. One of the children was identified to affected by two genes known to cause severe epilepsy and one child with severe EIEE was found to have the known causing disease m-TOR mutation but with a normal MRI and no other phenotypic features of TSC. Conclusions: Obtaining WES in children with severe Epileptic Encephalopathy in Calgary has helped to identify a previously elusive genetic etiology of their condition, some of which were not present or reported in the EpiK project. In addition to help to understand their process, in two children, identification of the etiology helped to establish more efficacious antiepileptic therapy, which has also partially improved their quality of life.