Anna Moles, Pantaleo Romanelli, Federico Zara, Pasquale Striano, Saskia Biskup and Roberto Coccurello
More than half of all epilepsies have some genetic basis and single gene defects in ion channels or neurotransmitter receptors are associated with some inherited forms of epilepsy. Genetic research even in the field of epilepsy disorders is increasing in term of testing platform for the investigation of sequence and structural variation. Next generation sequencing (NGS), i.e., high-throughput sequencing technologies now allow analyses that were previously prohibitive. Targeted resequencing methods by diagnostic panels enable to sequence all the genes associated with a certain disease simultaneously within a few weeks. In this review, we will discuss the overall helpfulness and convenience of simultaneous genotyping of multiple epilepsy genes by NGS in a pharmacogenetics perspective.
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