Table 1.
Study Patients: Demographic, Genetic, Seizure Frequency, Seizure Semiology, Current Anti-Seizure Medications Data.
| Patient # | Age (months) | Sex | Gene mutation | How often does your child currently have seizures? | Seizure semiology | Current seizure medication(s) |
|---|---|---|---|---|---|---|
| 1 | 61 | Male | c.655G>A, p.G219R and c.1475T>C, p.L492P, compound heterozygous | 1 febrile seizure in the past year | Focal motor with retained awareness, Generalized tonic–clonic (GTC) | Acetazolamide, namenda, phenobarbital |
| 2 | 178 | Female | c.655G>A, p.G219R and c.1475T>C, p.L492P, compound heterozygous | 50-100 times per day | Focal motor with retained awareness, unresponsive with abnormal motor, GTC, myoclonic | Acetazolamide, diazepam, felbatol, namenda, perampanel, sertraline |
| 3 | 129 | Female | c644C>T, p.A215V, homozygous | Once every 6 months on an average | GTC | Phenobarbital, topiramate, valproic acid |
| 4 | 45 | Male | c644C>T, p.A215V, homozygous | Currently once every 2-3 months (related to fever and if missed a dose) | Focal motor with retained awareness, GTC, tonic | Carbamazepine and topiramate |
| 5 | 278 | Female | c.425C>T, p.T142M; 655G>A p.G219R, compound heterozygous | Since she turned 6 years she had no more seizures, normal EEG, no medication | GTC | No medications |
| 6 | 206 | Female | c.425C>T, p.T142M; 655G>A p.G219R, compound heterozygous | Nearly every day, sometimes a couple of seizures mainly during the night | GTC | Acetazolamide, clonazepam, phenobarbital, stiripentol, bromides |
| 7 | 185 | Male | c.425C>T, p.T142M; 655G>A p.G219R, compound heterozygous | Every 10 to 14 days | GTC, myoclonic | Vigabatrin |
| 8 | 151 | Female | c.511 delG amino acid P.E171Sfs* 16 frame shift due to single nucleotide deletion. Homozygous | 2 times per month | GTC | Acetazolamide, diazepam |
| 9 | 137 | Male | c.511 delG amino acid P.E171Sfs* 16 frame shift due to single nucleotide deletion. Homozygous | Once in every 3 to months or when he is severely sick | GTC | Acetazolamide, diazepam, lacosamide |
| 10 | 108 | Male | c.148T>C, p.Cys50Arg; homozygous | Only when ill with fever or missing medications | Focal motor with retained awareness, Unresponsive with abnormal motor | Levetiracetam, valproic acid, phenobarbital |
| 11 | 353 | Female | c.148T>C, p.Cys50Arg; homozygous | None since 5 years of age | GTC | Lacosamide |
| 12 | 9 | Female | c.425C>T, p.T142 M; Deletion of the entire gene, compound heterozygote | Several per day | GTC, myoclonic | Levetiracetam |
| 13 | 41 | Female | c.1022G>A, p.Trp341* and c.655G>A, p.Gly219Arg, compound heterozygous | It varies; can be 4 times a day or once every 2 to 5 weeks | GTC, tonic, myoclonic | Acetazolamide, carbamazepine, clobazam, diazepam, valproic acid |
| 14 | 110 | Female | c.425C>T, p.T142M; deletion of the entire gene, compound heterozygous | One time per year | GTC | Levetiracetam, phenobarbital, valproic acid |
| 15 | 156 | Male | c.997C>T P.R333* Nonsense truncated protein; C.680 C>T P.T227N, compound heterozygous | Not in about 3 years | GTC, myoclonic | Acetazolamide, carbamazepine, oxcarbazepine, phenobarbital |
| 16 | 60 | Male | CDNA C.655 G>A P.G219R; Deletion exon 1 to 5, compound heterozygous | No recent seizures | GTC | Valproic acid |
| 17 | 216 | Male | c.231+2T>G homozygous | 4 times per week | GTC, tonic, infantile spasms, | Clonazepam |
| 18 | 24 | Male | No data | Monthly | Unresponsive with abnormal motor, GTC | Lacosamide, valproic acid |
| 19 | 18 | Male | c.997C>T, p.Arg333*, c.478G>T, p.Glu160*, compound heterozygous | No longer having seizures | Unresponsive with abnormal motor, GTC | Clobazam, topiramate, valproic acid |
| 20 | 3 | Male | c.997C>T p.R333*; c.1514C>T p.P505L, compound heterozygous | One time per week | Unresponsive with abnormal motor, GTC, myoclonic | Diazepam, levetiracetam, phenobarbital |
| 21 | 72 | Female | c680 C>T, p.T227M Homozygous | Big seizures—1 time per year | Absence, unresponsive with abnormal motor | Gabapentin, lamotrigine, lorazepam, leviteracetam, phenobarbital |
| 22 | 252 | Female | C.103-1 GtoA splicing mutation, intronic CCDX 11079.1; C.1276-1 G to A splicing mutation, compound heterozygous | Once a week | Absence, GTC, myoclonic | Acetazolamide, lacosamide, lamotragine, topiramate, valproic acid |
| 23 | 29 | Female | c.389G>A p.G130D; gene deletion exon 2 to 4, compound heterozygous | 3-5 times per day | Absence, unresponsive with abnormal motor, GTC, tonic | Diazepam, zarontin, phenobarbital, rufinamide |
Abbreviation: EEG, electroencephalography.