<abstract xmlns="http://www.w3.org/1999/xhtml"><sec id="j_joepi-2015-0001_s_001"><h3>Introduction</h3><p>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 (<italic>SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A</italic>, and <italic>CACNA1H</italic>) have been mounted.</p></sec><sec id="j_joepi-2015-0001_s_002"><h3>Aim</h3><p>The aim of the present study is to evaluate the performance of our custom array in detecting the <italic>SCN1A</italic> mutations in patients with severe myoclonic epilepsy in infancy.</p></sec><sec id="j_joepi-2015-0001_s_003"><h3>Material and methods</h3><p>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.</p></sec><sec id="j_joepi-2015-0001_s_004"><h3>Results</h3><p>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.</p></sec><sec id="j_joepi-2015-0001_s_005"><h3>Conclusion</h3><p>These findings indicate that this DNA array is likely to be a useful tool in clinical settings.</p></sec></abstract>

IntroductionVery 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 (SCN1A, SCN1B, CHRNA4, CHRNA7, CHRNB2, GABRA1, GABRD, GABRG2, CACNB4, CLCN2, KCNQ2, KCNQ3, CACNA1A, and CACNA1H) have been mounted.AimThe aim of the present study is to evaluate the performance of our custom array in detecting the SCN1A mutations in patients with severe myoclonic epilepsy in infancy.Material and methodsWe 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.ResultsHeterozygosity 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.ConclusionThese findings indicate that this DNA array is likely to be a useful tool in clinical settings.

Detection of <italic>SCN1A</italic> mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

Journal of Epileptology

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Detection of  mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

IntroductionVery few epilepsy phenotypes have been associated with causative genes; nevertheless, it is becoming possible, for some epilepsy phenotypes, to...

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

Pubblicato online: 10 giu 2013

Pagine: 5 - 13

Ricevuto: 24 mag 2012

Accettato: 03 giu 2013

DOI: https://doi.org/10.21307/joepi-2015-0001

Parole chiave
DNA chip, epilepsy, resequence, SMEI

© 2013 Takayuki Sugawara et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

Pubblicato online: 10 giu 2013

Pagine: 5 - 13

Ricevuto: 24 mag 2012

Accettato: 03 giu 2013

DOI: https://doi.org/10.21307/joepi-2015-0001

Parole chiaveDNA chip, epilepsy, resequence, SMEI

© 2013 Takayuki Sugawara et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Parole chiave
DNA chip, epilepsy, resequence, SMEI