[P3-40] Mutational analysis for SCN1A and Effectiveness of stiripentol in patients with Dravet syndrome
[Introduction]
Dravet syndrome (DS) is one of the most intractable epilepsy syndromes that is characterized by febrile seizures beginning in the first year of life, multiple seizure and inducing epileptic encephalopathy.
[Object]
The aim of this study is to evaluate effectiveness of stiripentol (STP) add on therapy to valproate (VPA) and clobazam (CLB) to reduce the seizure frequency. In addition, we intend to analyze SCN1A mutations in patients with DS, and classified into mutation groups and non-mutation groups according to ACMG (American College of Medical Genetics and Genomics) classification. We compare response of STP according to SCN1A mutation.
[Methods]
We conducted a retrospective study of clinically confirmed DS patients who visit our hospital from January 2007 to May 2015. We analyzed the SCN1A mutation by direct sequencing.
[Results]
A total 39 patients (female 22, male 17) were included. Seizure started at a mean age of 0.43 ± 0.17(yr) in mutation group versus 0.76 ± 0.77(yr) in non-mutation groups. The response of STP is about 72.53 ± 23.00(%) in the mutation group versus 50.58 ±40.14(%) in non-mutation groups (p = 0.004). And when we compared between mutation groups and benign groups, the response of STP is 72.53 ± 23.00(%) in the mutation groups, versus 50.22 ± 37.58(%) in the benign groups (p = 0.024).
[Conclusions]
STP had a significant effectiveness to reduce the seizure frequency in patients with DS have SCN1A mutations compare to who do not have mutations.
Dravet syndrome (DS) is one of the most intractable epilepsy syndromes that is characterized by febrile seizures beginning in the first year of life, multiple seizure and inducing epileptic encephalopathy.
[Object]
The aim of this study is to evaluate effectiveness of stiripentol (STP) add on therapy to valproate (VPA) and clobazam (CLB) to reduce the seizure frequency. In addition, we intend to analyze SCN1A mutations in patients with DS, and classified into mutation groups and non-mutation groups according to ACMG (American College of Medical Genetics and Genomics) classification. We compare response of STP according to SCN1A mutation.
[Methods]
We conducted a retrospective study of clinically confirmed DS patients who visit our hospital from January 2007 to May 2015. We analyzed the SCN1A mutation by direct sequencing.
[Results]
A total 39 patients (female 22, male 17) were included. Seizure started at a mean age of 0.43 ± 0.17(yr) in mutation group versus 0.76 ± 0.77(yr) in non-mutation groups. The response of STP is about 72.53 ± 23.00(%) in the mutation group versus 50.58 ±40.14(%) in non-mutation groups (p = 0.004). And when we compared between mutation groups and benign groups, the response of STP is 72.53 ± 23.00(%) in the mutation groups, versus 50.22 ± 37.58(%) in the benign groups (p = 0.024).
[Conclusions]
STP had a significant effectiveness to reduce the seizure frequency in patients with DS have SCN1A mutations compare to who do not have mutations.