EPIDASD stands for: Epilepsy - Intellectual Disability - Autism Spectrum Disorder
Epilepsy is a common neurological disease. It is not one disease, but a common term for a number of conditions with very different manifestations and prognoses. A significant number of the epilepsies have a genetic cause, and in such cases, genetic tests may help establish the aetiology and mechanism of disease action, and in certain instances allowing for more targeted treatment.
A major challenge in the diagnosis of epilepsy is phenotypic and genetic heterogeneity. Phenotypic heterogeneity, where the same gene or even the same genetic variant can have different clinical manifestations or epilepsy form. Genetic heterogeneity means the same clinical manifestation or epilepsy form are caused by variations in different genes.
Epilepsy is often associated with other neurological conditions, co-morbidities, such as ataxia, mental retardation, intellectual disability, autism or autism spectrum disorders. This complicates the diagnostic process and treatment as an analysis of the phenotypical/clinical picture does not provide insights into the pathogenic mechanism. The mechanism can be everything from channelopathies, receptor-defect, metabolic and enzymatic defects, to structural changes in the brain.