Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array
Online veröffentlicht: 10. Juni 2013
Seitenbereich: 5 - 13
Eingereicht: 24. Mai 2012
Akzeptiert: 03. Juni 2013
DOI: https://doi.org/10.21307/joepi-2015-0001
Schlüsselwörter
© 2013 Takayuki Sugawara et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
Introduction
Very few epilepsy phenotypes have been associated with causative genes; nevertheless, it is becoming possible, for some epilepsy phenotypes, to predict the most efficacious anti-epileptic drugs for patients based on their genetic makeup. The development of individualized medicine based on genetic information and the genetic diagnosis of epilepsy are expected to greatly improve the diagnosis and treatment of epilepsy. Here, we developed a DNA array (resequencing array) for the genetic diagnosis of epilepsies in which 14 epilepsy – related genes (
Aim
The aim of the present study is to evaluate the performance of our custom array in detecting the
Material and methods
We compared mutation data generated by DNA array sequencing of DNA samples from patients with severe myoclonic epilepsy in infancy to the data generated by capillary sequencing.
Results
Heterozygosity was detected in 44 of 48 patients (92%). We successfully identified epilepsy mutations, and the results of DNA array analyses were largely consistent with the results of capillary sequencing analysis.
Conclusion
These findings indicate that this DNA array is likely to be a useful tool in clinical settings.