Table 2 Seizure information of the six patients with BBSOAS in our clinic
From: Effective treatment of NR2F1-related epilepsy with perampanel
Patient | Age at last follow-up | Age at SZ onset | Seizure type | Brain MRI | EEG | ASMs used | ASMs in use at last follow-up | Time from perampanel administration to seizure-free status | Epilepsy outcomes |
|---|---|---|---|---|---|---|---|---|---|
1 | 3 years and 10 months | 6 months | IES, GTS | Thin corpus callosum | Bursts of high-amplitude spikes, multiple spikes and spike-and-slow waves, and multiple clinical attacks (with a spasm of the whole body trunk) (at 5 months); Low-amplitude fast waves, spikes and spike-and-slow waves in the right middle and posterior temporal regions during sleep (at 2 years and 5 months); | Steroid, TPM, vitamin B6, perampanel | Perampanel (0.037 mg/kg/day), TPM (4.32 mg/kg/day) | 1 months | Seizure-free for 32 months since 1 year and 2 months (seizures began to decrease 1 week after perampanel added) |
2 | 3 years and 5 months | 0.5 months | IES | DM | High-amplitude arrhythmia, bilateral discharges mainly in the posterior region (4 months); Slow spikes and spike-and-slow waves in the bilateral parietal, occipital and posterior temporal areas; a series of focal spasms were detected (6.5 months); No high-amplitude arrhythmia, spike-and-slow waves, sharp-slow waves in the bilateral posterior head (10 months) | ACTH, magnesium sulfate, vigabatrin, TPM, vitamin B6, KD, perampanel | Perampanel (0.06 mg/kg/day), TPM (11.9 mg/kg/day) | 7 months | Seizure-free for 27 months since 1 year and 2 months (seizures began to decrease 2 weeks after perampanel added) |
3 | 8 years 8 months | 2 months | IES, GTS, myoclonus | Normal | Spike-slow/sharp-slow wave, multiple spike-and-slow/slow waves mainly in the posterior and the midline areas; isolated and series of spasms or mild tonic attacks (7 years and 6 months); Spike-and-slow/sharp-slow, slow waves, sharp, and spike wave rhythms mainly in the posterior and midline areas (8 years) | ACTH, vigabatrin, TPM, VPA, CZP, LEV, LTG, perampanel | Perampanel (0.238 mg/kg/day), LTG (withdrawing) | 3 months | Seizure-free for 9 months since 7 years and 11 months (seizures began to decrease 6 week after Perampanel added) |
4 | 1 year 8 months | 4 months | IES | Normal | Hypsarrhythmia during awake time and sleep, with intermittent phenomenon; three episodes of isolated spasm (7.5 months) | LEV, ACTH, vigabatrin, TPM, vitamin B6, VPA, perampanel | Perampanel (0.214 mg/kg/day, increasing), VPA (withdrawing), TPM (2.68 mg/kg/day) | 9 months | Seizure-free for 1 month since 1 year and 7 months (seizures began to decrease 8 weeks after Perampanel added) |
5 | 3 years and 5 months | 4 months | IES, focal seizure | Thin corpus callosum | Multifocal slow waves, spikes and sharp waves, and one attack of focal origin was detected (8 months); 6–7 Hz rhythm with medium-to-high wave amplitudes and a 15–20 Hz fast wave rhythm with a large number of continuous discharges in the bilateral occipitotemporal regions (2 years and 7 months); | VPA, TPM, LTG, perampanel | Perampanel (0.5 mg/kg/day), TPM (10 mg/kg/day) | 12 months | Seizure-free for 19 months since 1 year and 10 months (seizures began to decrease 4 weeks after perampanel added) |
6 | 2 years and 3 months | 2 months | IES, AS, myoclonus | Wider outer frontotemporal space | Multifocal spike-and-slow/sharp-slow waves, spike waves, sharp waves in the bilateral posterior areas. Several spasms were detected, and atonic seizure followed myoclonic seizures (1 year and 6 months) | Perampanel | Perampanel (0.25 mg/kg/day) | 12 months | Seizure-free for 9 months since 1 year and 8 months (seizures began to decrease 6 weeks after perampanel added) |