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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 med...
Source: PLOS Currents Evidence on Genomic Tests - April 25, 2013 Category: Genetics & Stem Cells Authors: sustenhouse Source Type: research
