Speaker: Prof. Helen Cross, Professor of Childhood Epilepsy, London, UK
Prof. Cross outlines how genetic testing informs DEE diagnosis and management, covering candidate selection, the evolution from gene panels to whole genome sequencing, and precision treatment approaches guided by genetic etiology.
0:00 - Candidate selection for genetic testing: Key clinical and practical factors that determine who should be tested.
1:17 - Evolution of genetic testing methods: From targeted gene panels to whole genome sequencing, with a comparison of coverage, yield, and analytical trade-offs.
3:22 - Yield, interpretation, and the genomics MDT: How yield varies by technique and population, and the role of multidisciplinary teams in interpreting novel findings and VUS.
5:11 - DEEs as complex, multi-system conditions: Why treatment targets must extend beyond seizures, and how genetic etiology increasingly defines syndrome identity.
7:32 - Precision treatment and early intervention evidence: Genetic and pathway-targeted therapies, drug repurposing, and real-world data supporting early genetic diagnosis.
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