Activation of wicket spikes by REM sleep.

INTRODUCTION: Wicket spikes consist of monophasic arciform waveforms seen over the temporal regions, either bilaterally or independently over the two hemispheres. They should not be misinterpreted as epileptic abnormalities. They are usually found during light NREM sleep or drowsiness. In this study, we report an activation of wicket spikes by REM sleep. METHODS: Two patients underwent 48-hour video-EEG. Their sleep macrostructure was analyzed. The presence of wicket spikes was correlated to each specific sleep stage. RESULTS: In one case, wicket spikes appeared exclusively during REM sleep. In another patient, although wicket spikes were present throughout all sleep stages, their frequency was much higher during REM sleep (64% during REM sleep, 22% during light NREM sleep, 14% during drowsiness). DISCUSSION: This study highlights that wicket spikes may be present exclusively during REM sleep and that this stage of sleep can activate them. This para-physiological rhythm, when first described, was linked to drowsiness and light NREM sleep. The persistence of wicket spikes during REM sleep has been only recently described and an increase in their frequency during this sleep stage has never been previously observed.

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

OBJECTIVES: The aim of this study was to determine the genetic defect in a 4-generational family with an epileptic disorder characterized by febrile and afebrile polymorphic seizures and mild to severe mental retardation by means of analyzing the neuronal voltage-gated sodium channel alpha-subunit gene SCN1A for mutations. METHODS: A Bulgarian family was ascertained and clinically assessed, followed by mutation analysis of the SCN1A gene using direct sequencing to detect point mutations and multiplex amplicon quantification to identify copy number variations. RESULTS: A microdeletion encompassing the entire SCN1A gene segregating with all affected members was identified in this family. Additional analysis showed that the unaffected father of the proband is mosaic for the deletion. So far, SCN1A deletions, predicted to lead to haploinsufficiency, are exclusively identified in isolated patients with Dravet or contiguous gene syndromes. Because of the severe phenotype, SCN1A deletion carriers are usually not able to live independently and start a family, and hence do not transmit the disease. CONCLUSIONS: We report an inherited SCN1A gene deletion not exclusively associated with Dravet syndrome. Moreover, our results demonstrate that SCN1A haploinsufficiency can cause a significant intrafamilial clinical variability including moderately affected to syndromal patients. The involvement of multiple genetic and environmental factors could be the basis of this difference in phenotype severity.

Wicket spikes misinterpreted as focal abnormalities in idiopathic generalized epilepsy with prescription of carbamazepine leading to paradoxical aggravation.

Wicket spikes (WS) are a normal variant EEG pattern that sometimes can be mistaken for epileptiform activity. We present a patient with WS and idiopathic generalized epilepsy who had been wrongly diagnosed with focal epilepsy, which leads to the prescription of carbamazepine with severe aggravation of generalized tonic-clonic seizures. She was referred for presurgical assessment of refractory focal epilepsy but long-term video-EEG showed sharp theta waves over the temporal regions during awakening, with a typical aspect of WS during drowsiness, nREM sleep stages I-II, and rapid eye movements (REM) sleep. There were a few generalized spike-waves during sleep but interictal changes were increased in frequency at awakening with bursts of fast-generalized spike-waves. Carbamazepine was progressively withdrawn and the patient was progressively switched to zonisamide. The patient no longer complained of generalized tonic-clonic seizures. At one year follow-up, this patient receives zonisamide with valproate. She has remained seizure-free.