Neurogenetics Reference Lab · Teaching Example
- Panel
- Comprehensive Epilepsy Panel (547 genes)
- Report ID
- TEACH-0001
- Indication
- Refractory infantile-onset epilepsy with prolonged febrile seizures and developmental plateau.
- Specimen
- Peripheral blood, EDTA · Received 2026-04-12
- Reported
- 2026-04-25
- Methodology
- Targeted capture NGS, mean depth 250×. CNV from read-depth. Variants confirmed by Sanger. Parental samples processed for trio analysis.
Patient (anonymized teaching example)
Age 14 months · Female · Mixed European ancestry
Clinical: Onset at 6 months with prolonged febrile hemiclonic seizures. Multiple seizure types now present. Mild developmental delay. Normal MRI.
Reportable Variants
| Gene | Variant | Zygosity | Condition (Mode) | Origin | Classification |
|---|---|---|---|---|---|
Interpretation
This individual is for the SCN1A variant c.4168G>A (p.Val1390Met), confirmed by trio testing. The variant is absent from gnomAD (v4 popmax allele frequency 0). In silico predictors are concordant for a deleterious effect. SCN1A is a well-established Dravet syndrome gene with as the disease mechanism. The variant is classified as Pathogenic per ACMG/AMP 2015 with (de novo confirmed), (absent from controls), and (computational evidence).
Recommendations
- •Genetic counseling for the family.
- •Avoid sodium-channel blockers (carbamazepine, oxcarbazepine, lamotrigine, phenytoin) — known to worsen Dravet seizures.
- •Consider clobazam, valproate, stiripentol, fenfluramine, or cannabidiol per standard Dravet pharmacology.
- •Recurrence risk for future pregnancies is low (<1%) given confirmed de novo origin; prenatal/PGT-M is available if desired.