Abstract:
ObjectiveTo summarize the characteristics of SCN1A gene mutation, and clinical characteristics of related epilepsy.
MethodsThe positive mutations of SCN1A gene in epilepsy children from Anhui Children's Hospital were investigated using gene sequencing, and the characteristics of SCN1A gene mutation and clinical characteristics of related epilepsy were summarized and analyzed.
ResultsAmong 19 cases with SCN1A gene mutations, 8 cases with missense mutation, 7 cases with nonsense mutation, 1 case with frameshift mutation, 2 cases with shear point mutation and 1 case with non-frameshift deletion were identified.Three cases with genetic mutation and 16 cases with neonatal mutation were found.The onset age of epilepsy in 17 cases were less than 6 months.The cluster seizures in 14 cases, status epilepticus in 16 cases, and developmental retardation in 14 cases were found.Eleven cases with Dravet syndrome were diagnosed, and which included 8 cases with newborn mutations.The results of following-up showed that the seizure reduction in 6 cases were less than 50%, the seizure reduction in 11 cases were greater than 50%, 1 case died, and 1 case lost following-up.
ConclusionsThe onset age of epilepsy in children with SCN1A mutation is early, and the Dravet syndrome is the most serious and common newborn mutations.Early diagnosis is helpful to choose the appropriate treatment scheme, and improve the prognosis.
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