Table 2

List of the 10 patients where a PM strategy was tried and was successful (>50% seizure reduction)

Gene variant and detailsAge at clinical diagnosis (years)Age at genetic diagnosis (years)No of ASMs tried before genetic diagnosis/other non-medical treatmentChanges of treatment following genetic diagnosisAge at last follow-up (years)Diagnostic assessment following genetic diagnosisPrevious ASMs worsening seizure control
Homozygous ARG1 (c.93del, p.Arg32fs), pathogenicUnknown291Low-protein diet33NoneNone
Heterozygous DEPDC5 (c.727C>T, p.Arg243*), pathogenic1126Nine plus cortical resectionIntroduction of ketogenic diet30ECGOxcarbazepine
Homozygous GAMT (c.327G>A, p.Lys109=), likely pathogenic2526Seven plus callosotomyIntroduction of creatine supplements, withdrawal of sodium valproate31Metabolic assessmentNone
Heterozygous KCNH2 (c.3125_3135dupTGGATGCCCTC, p.Gln1046Trpfs*15), pathogenic20.43Beta-blocker therapy (nadolol)3Regular cardiac assessment surveillance, QT interval measurementNone
Heterozygous SCN1A (c. 602+1G>A, p.(?)), pathogenic768Withdrawal of carbamazepine, introduction of stiripentol21NoneCarbamazepine
Heterozygous SCN1A (c.992delT, p.Leu331X), pathogenic58595Withdrawal of primidone and carbamazepine, introduction of levetiracetam69NoneNone
Heterozygous SCN1A (c.1624C>T, p.Arg542*), pathogenic272715Withdrawal of lamotrigine, increase of sodium valproate31Speech and language assessment for dysphagiaOxcarbazepine, tiagabine, lamotrigine
Heterozygous SCN1A (c.2729A>C, p.Gln910Pro), likely pathogenic484811Withdrawal of carbamazepine58NoneLamotrigine, phenobarbitone
Heterozygous SCN1A (c.2792G>A, p.Arg931His), likely pathogenic414310Introduction of stiripentol and clobazam, withdrawal of carbamazepine53NoneTopiramate, levetiracetam, zonisamide, pregabalin, lacosamide, clobazam, carbamazepine, sodium valproate, stiripentol, lamotrigine
Heterozygous SLC2A1 (c.823G>A, p.Ala275Thr), pathogenic1161Introduction of ketogenic diet12Regular cognitive assessmentNone
  • ASM, antiseizure medication; PM, precision medicine.