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Exome Sequencing Show Promise as First-Tier Diagnostic Test in Thai Epilepsy Study

In the European Journal of Human Genetics, a team from Thailand looks at the feasibility of using exome sequencing as a "first-tier" test to diagnose treatment-resistant epilepsy in infants. In 103 infantile-onset cases, including dozens of cases that began appearing within an infant's first month, the researchers used exome sequencing to diagnose 64 cases and partially solve two more, identifying 66 pathogenic or likely pathogenic variants in 27 genes with new or known ties to epilepsy. Along with new diagnoses and the detection of recurrent alterations affecting genes such as SCN1A, for example, the authors note that the variants found helped to guide treatment in a significant subset of the newly diagnosed cases. "This study is the first and largest to investigate genetic causes in infantile-onset pharmacoresistant epilepsy in the Thai population," they write, "and suggests the use of [exome sequencing] as the first-tier genetic testing to increase diagnostic yield and improve treatment outcomes."

The Scan

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