SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome

Clinical Scenario Test for epilepsy syndromes associated with mutations in the SCN1A gene including the severe infantile onset epilepsies- typical Dravet syndrome (severe myoclonic epilepsy in infancy) and its borderline subtypes. Dravet syndrome typically presents in the first year of life with prolonged febrile and non-febrile, generalised clonic or hemiclonic epileptic seizures in children with no pre-existing developmental problems. Other seizure types including myoclonic, focal and atypical absence seizures appear between the ages of one and four years. The epilepsy is usually refractory to standard anti-epileptic medication and from the second year of life affected children develop an epileptic encephalopathy resulting in cognitive, behavioural and motor impairment. Seizure types within Dravet syndrome such as status epilepticus may be life threatening and sudden unexpected death in epilepsy can occur. Despite the phenotypic variability within the typical and borderline forms they are now all classified together as Dravet syndrome. Referrals made by paediatric neurologists, neurologists, epileptologists, paediatricians, clinical geneticists. Sample processed for SCN1A mutation screening. Target population includes those with electroclinical phenotype of Dravet Syndrome or clinical sub-types – several seizure types in one individual with onset in infancy, refractory to medication and with generalised spike and wave on EEG or infants less than 1 year with 2 or more p...
Source: PLOS Currents Evidence on Genomic Tests - Category: Genetics & Stem Cells Authors: Source Type: research