Epileptic and non-epileptic paroxysms

Problematic epilepsy is common in the RTT population (14). However, autonomic events may simulate atypical seizures. Management must start with a clear clinical description of the fits, which is essential for the correct diagnosis of epilepsy. Signs of abnormal brainstem activity include blinking of the eyes and or facial twitching, non-epileptic vacant spells (atypical absence attacks without EEG evidence of epilepsy) with or without cyanosis and hypocapnic attacks with tetany. The abnormal brainstem activity can only be confirmed by monitoring both the brainstem and cortical activities synchronously and simultaneously in appropriate neurophysiological set up (6).
Treatment of epilepsy in RTT is aimed at reducing the excitability of neurones in the immature brain while at the same time trying to prevent the spread of seizures. We must not try to treat the EEG abnormalities in RTT, unless there is a clear clinical correlate. We have found a combination of Sodium Valproate (Epilim) and Lamotrigine useful for these purposes. There is a potential use of Gabapentin or Pregabalin for treatment of the very common abnormal brainstem autonomic paroxysms in RTT. The rationale of these drugs is neuronal membrane stabilisation. We also have limited
experience with left vagus nerve stimulation using implanted stimulators. The two treatment regimes are promising but require further clinical evaluation.