Advances in Genetic Testing and Clinical Management in Epilepsy

What is the common denominator of epileptic disorders?

• Genetic causes

• Electro-clinical features

• Management

• Epilepsy

What is the estimated occurrence of genetic epilepsies in the population?

• 0.4%

• 1-2%

• 5%

• 30%

Which type of genetic alteration is most commonly associated with epileptic syndromes?

• Deletions

• Duplications

• Missense mutations

• Frameshift mutations

Tags

NGSS.HS-LS3-2

What is the diagnostic yield of gene panel testing in childhood epilepsy?

• 10%

• 28%

• 40%

• 50%

What is the advantage of Whole Exome Sequencing (WES) over gene panel testing?

• Lower cost

• Higher diagnostic yield

• Faster results

• No need for variant interpretation

What is the main limitation of Whole Genome Sequencing (WGS) in clinical practice?

• Higher cost

• Technical difficulties

• Lack of accuracy in variant detection

• Limited number of genes sequenced

What is the recommended approach for variant interpretation in Whole Exome Sequencing (WES)?

• Comparison with polymorphic variants in the general population

• Comparison with known pathogenic variants

• Comparison with variants in the same family

• Comparison with variants in unrelated patients

What is the classification of a variant that is absent or very rarely observed in the general population?

• Pathogenic

• Likely pathogenic

• Benign

• Likely benign

What is the role of array-based techniques in detecting copy number variants (CNVs)?

• Higher accuracy than Whole Exome Sequencing (WES)

• Higher cost than Whole Genome Sequencing (WGS)

• Limited to specific syndromes

• Not applicable for CNV detection

What is the potential advantage of Whole Genome Sequencing (WGS) in detecting CNVs?

• Higher resolution than array-based techniques

• Lower cost than Whole Exome Sequencing (WES)

• Faster results than Sanger sequencing

• No need for variant interpretation