Some Genetic Aspects of Rolandic Epilepsy: Waking and Sleep EEGs in Siblings

Abstract

Epileptic activity was recorded electroencephalographically in at least one sibling in 22 (51.16%) of 43 patients with rolandic epilepsy and/or centrotemporal spikes. In 26 of 69 (37.68%) siblings, epileptic discharges were observed. These were recorded only in waking in 1 subject (1.5%), in waking and sleep in 13 (18.8%), and in sleep only in 12 (17.4%). The greatest number of epileptic discharges was noted in waking during hyperventilation (52.4%) and in sleep stage C (88%). Foci were recorded in only 4 (5.8%) of the 26 cases with epileptic discharges, and generalized spike-wave complexes were recorded in 22 (31.9%). In one sibling, the sharp-wave focus was located in the right centrotemporal area, in a second in the left occipital, and in a third in the left frontal region with spreading to the centrotemporal; in the fourth, two independent foci were observed in the left and right centrotemporal area. One epileptic discharge was observed every 74.9 s in waking and every 150.9 s in sleep. Epileptic activity was greatest in the group between 5 and 12 years of age (54.3%). The same activation rates were noted in siblings of patients with (47.2%) and without seizures (42.9%), and no differences were noted in siblings with (40%) or without (37.5%) seizures. Family history and sex of the siblings of patient did not play a role in the rate of activation. An autosomal dominant inheritance is assumed, but further investigations are necessary.

Idade de aparecimento e desaparecimento das pontas rolândicas em 160 crianças acompanhadas ambulatorialmente: estudo atuarial

“…As PRs nem sempre estão associadas à epilepsia [4][5][6][7] ; entretanto são elementos importantes da EPBI-R, cuja fenomenologia tem as seguintes características principais: crises parciais motoras hemifaciais breves, crises parestésicas envolvendo a língua, lábios, gengivas, face interna da bochecha, região lateral da garganta, anartria e hipersalivação 8 . As PRs têm caráter genético bem determinado segundo os estudos dos grupos de Bray e de Degen [9][10][11][12] .…”

Recent Advances in the Genetics of Epilepsy: Insights from Human and Animal Studies

“…BECTS (benign rolandic epilepsy) and its EEG trait have complex or autosomal dominant inheritance with age-dependent penetrance (93,94). There is an increased incidence of both focal and generalized EEG abnormalities among first-degree relatives.…”

Sleep and the epilepsies

“…Ganshirt and Vetter [29] classified their results according to the time of occurrence of grand mal seizures. In nocturnal seizures, spikes occurred in 6% during waking and 62.5% during sleep; in patients presenting seizures during awakening, 41% had spikes during waking and 73% during sleep; in patients with diffuse forms of epilepsy (seizures during sleep or waking), 34% [21] reported an activation rate of 56.3% in patients who only presented seizures during sleep, 70% in patients who on]y presented seizª during waking and 50% in diffuse forms of epilepsy. However, it would be difficult to transpose all of these data into the intemational classification's categories, since idiopathic generalised, cryptogenic or symptomatic generalised and probably partial epilepsy are mixed together.…”