Table 6.
Clinical benefits after molecular diagnosis
| Clinical benefits | Effects (Case details) | |
|---|---|---|
| Diagnosis | SLC2A1 (GLUT1-DS) | Definitive diagnosis (Case 164) |
| SCN1A (DS) | Definitive diagnosis (Case 13, 38, 65, 115, 140) | |
| TSC2 (TSC) | Definitive diagnosis (Case 94, 98) | |
| Management implications | SLC2A1, using KD | Controlled (Case 164, KD) |
| SCN1A, stopping OXC | Remitted (Case 13, VPA, TPM,10–20 / month) | |
| SCN1A, avoiding OXC, CBZ, and LTG | Remitted (Case 23, VPA, TPM, seizure-free for 5 months; Case 26, LEV, TPM, CZP, seizure-free for 6 months; Case 149, VPA, TPM, LEV, CZP, seizure-free for 4 months; Case 172, VPA, TPM, CZP, seizure-free for 1 year) | |
| Uncontrolled (Case 35, 38, 53, 56, 65, 115, 124, 130, 140, 148, 162) | ||
| TSC2, using rapamune | Remitted (Case 32, seizure-free for 7 months) | |
| Long-term follow up | TSC1 (risk of TSC) | Case 68 |
| Reproductive planning | Suggesting the family conduct genetic counseling | TSC2 (Case 32, 98), SCN8A (Case 7), SCN1A (Case 149), ADSL (Case 52) |
Abbreviations: DS Dravet syndrome, GLUT1-DS glucose transporter type 1 deficiency syndrome, Rett Rett syndrome, TSC tuberous sclerosis complex, KD ketogenic diet, OXC oxcarbazepine, CBZ carbamazepine, LTG lamotrigine, VPA sodium valproate, TPM topiramate, LEV levetiracetam, CZP clonazepam