Role of Genetic Testing in Diagnosis of Early-Life Epilepsies

Epilepsy is a central nervous system disorder characterized by unprovoked and recurrent seizures. Seizures are a result of sudden rush of brain activity. Seizures affect the way one acts or behaves for a short period of time. Epilepsy affects all age groups but is more common in young children and older adults. Approximately 2 in 1000 children develop epilepsy in the first three years of life. However, the cause for these seizures remains unknown in half or more cases. Currently the method used to diagnose first presentation of seizures in neonates includes microarray and neuro-imaging to name a few. A study published in JAMA Pediatrics supports the use of genetic testing, especially sequencing as a first-line diagnostic method for early-life epilepsies.

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