Abstract
New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatment decisions.
Highlights
New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics
The development of next-generation sequencing technologies has revolutionized the field of medical genetics and gene discovery across many different disciplines
Keeping up with the barrage of novel genetic findings is a significant challenge for investigators and clinicians alike, as is determining which clinical test is most appropriate to order for any given patient
Summary
New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; it is important to understand the types of tests available and the types of mutations that can be detected. Exome studies in large patient cohorts confirm that de novo mutations are important in epileptic encephalopathies beyond Dravet syndrome and that there is significant genetic heterogeneity. EGI and similar collaborative efforts will be essential to moving the field forward even more quickly For both gene panels and exomes (and even for single gene tests), availability of family DNA may be important for interpreting results. In individuals with “epilepsy-plus”—that is, epilepsy plus any other feature, including developmental delay or intellectual disability, congenital anomaly, autism spectrum disorder, and so on—consider CMA testing to detect CNVs first This would include patients with nonspecific epileptic encephalopathy. There are many considerations when deciding which to select, including phenotype (is a specific panel available?), severity (is a rapid diagnosis required for medical decision-making?), and cost
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