Table 6 Clinical benefits after molecular diagnosis
From: Novel and de novo mutations in pediatric refractory epilepsy
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 7Â 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) |