[P3-62] Positive Detection Rate of Genetic Biomarkers in Childhood Epilepsy
[Introduction]
The concept of individualized therapyis becoming increasingly important in the treatment of pediatric epilepsy. The aim of this study is to realize the positive rate of single genedeterminations in pediatric epilepsy.
[Methodology]
From year 2011 to October 2016, 60 infants and childrenexhibiting epileptic seizures and/or fulfilling theclinical features of specific epilepsies and epilepsy syndromes were collected. Those included Dravetsyndrome (DS), severe neonatal epilepsies with burst-suppression pattern including early myoclonicencephalopathy (EME) or early infantile epileptic encephalopathy (EIEE), infantile spasms (IS),malignant migrating partial seizures in infancy (MMPSI), alternating hemiplegia of childhood (AHC),and infantile seizures with or without paroxysmal kinesigenic dyskinesia (ISPKD). Corresponding genetic testing of SCN1A, KCNQ2,CDKL5, ARX, KCNT1, ATP1A3, and PRRT2 genes were checked, respectively.
[Results]
13 DS,11 severe neonatal epilepsies, 13 female IS and 5 male IS,3 MMPSI, 4 AHC, and 11ISPKD patients were found. The detection rate of gene mutations was 10 of 13 (77%) in SCN1A gene, 1 of11(9%) in KCNQ2 gene, 4 of 13 (31%) in CDKL5 gene, zero ARX gene, 1 of 3 (33%) in KCNT1 gene, 3 of 4 (75%) inATP1A3 gene, and 2 of 11 (18%) in PRRT2 gene.
[Conclusions]
Clinical information is essential for classifying specific epilepsies and epilepsy syndromes in pediatricepilepsies in order to do further genetic tests. The identification of valid biomarkers is helpful to guide patient-tailored individualizedtreatment strategies in pediatric epilepsies, outcome prediction of diseases, furthermore geneticcounseling to the patient’s families.
The concept of individualized therapyis becoming increasingly important in the treatment of pediatric epilepsy. The aim of this study is to realize the positive rate of single genedeterminations in pediatric epilepsy.
[Methodology]
From year 2011 to October 2016, 60 infants and childrenexhibiting epileptic seizures and/or fulfilling theclinical features of specific epilepsies and epilepsy syndromes were collected. Those included Dravetsyndrome (DS), severe neonatal epilepsies with burst-suppression pattern including early myoclonicencephalopathy (EME) or early infantile epileptic encephalopathy (EIEE), infantile spasms (IS),malignant migrating partial seizures in infancy (MMPSI), alternating hemiplegia of childhood (AHC),and infantile seizures with or without paroxysmal kinesigenic dyskinesia (ISPKD). Corresponding genetic testing of SCN1A, KCNQ2,CDKL5, ARX, KCNT1, ATP1A3, and PRRT2 genes were checked, respectively.
[Results]
13 DS,11 severe neonatal epilepsies, 13 female IS and 5 male IS,3 MMPSI, 4 AHC, and 11ISPKD patients were found. The detection rate of gene mutations was 10 of 13 (77%) in SCN1A gene, 1 of11(9%) in KCNQ2 gene, 4 of 13 (31%) in CDKL5 gene, zero ARX gene, 1 of 3 (33%) in KCNT1 gene, 3 of 4 (75%) inATP1A3 gene, and 2 of 11 (18%) in PRRT2 gene.
[Conclusions]
Clinical information is essential for classifying specific epilepsies and epilepsy syndromes in pediatricepilepsies in order to do further genetic tests. The identification of valid biomarkers is helpful to guide patient-tailored individualizedtreatment strategies in pediatric epilepsies, outcome prediction of diseases, furthermore geneticcounseling to the patient’s families.