Table 1.
Demographic, genetic, seizure, medication, and movement disorder data from caregiver report.
Patient ID | Age (months) | Sex | GNAO1 Variant | Age of seizure onset | Seizure frequency | Types of seizures | Current seizure medications | Movement disorder | Movement disorder medications |
---|---|---|---|---|---|---|---|---|---|
1 | 46 | Female | p.G40W | First week of life | 2 to 3 per week | Focal, GTC | Lacosamide, oxcarbazepine, gabapentin | Yes | None |
2 | 150 | Male | NR | My child has never had seizures | NA | NA | NA | Yes | Levetiracetam, trazodone, tetrabenazine, clonazepam |
3 | 32 | Female | NR | My child has never had seizures | NA | NA | NA | Yes | None |
4 | 31 | Male | p.E246K | My child has never had seizures | NA | NA | NA | Yes | Tetrabenazine, diazepam |
5 | 38 | Female | p.R209H | My child has never had seizures | NA | NA | NA | Yes | None |
6 | 14 | Male | p.Q52P *Novel variant in this study |
First week of life | 20 per day | Infantile spasms, tonic, GTC | Levetiracetam, phenytoin, diazepam, clobazam | No | NA |
7 | 22 | Male | p.G203R | Less than 1 year of age | Seizure free | Infantile spasms, focal, GTC | Vigabatrin | Not sure | None |
8 | 60 | Female | NR | First week of life | Seizure free | Focal, tonic, GTC | Gabapentin, perampanel | Yes | Chlorprothixene |
9 | 48 | Male | p.G203R | Less than 1 year of age | 10 per day | Infantile spasms | Clobazam, clonazepam, vigabatrin, oxcarbazepine, valproic acid, levetiracetam | Yes | Clobazam, clonazepam |
10 | 72 | Female | p.G203R | First week of life | 1 per week | Tonic, GTC | Gabapentin, lacosamide, clobazam | Yes | Clobazam |
11 | 72 | Male | p.G203R | Less than 1 year of age | 30 per day | Absence, focal, tonic, GTC | Valproic acid, lamotrigine, clobazam | Yes | Baclofen |
12 | 51 | Female | p.G203R | First week of life | Varies significantly | Not sure | Clonazepam, topiramate | Yes | Clonazepam |
13 | 20 | Male | p.G203R | First week of life | 1 per week | Focal, GTC | Valproic acid, ketogenic diet | Yes | None |
14 | 20 | Female | p.E237K | My child has never had seizures | NA | NA | NA | Yes | None |
15 | 24 | Female | NR | My child has never had seizures | NA | NA | NA | Yes | Valproic acid |
Abbreviations: NR, not reported; NA, not applicable; GTC, generalized tonic clonic seizure.