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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the alpha 4 and beta 2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep walking. We identified a new genetic locus for familial sleep-related focal epilepsy on chromosome 8p12.3-8q12.3. By sequencing the positional candidate neuronal cholinergic receptor alpha 2 subunit gene (CHRNA2), we detected a heterozygous missense mutation, I279N, in the first transmembrane domain that is crucial for receptor function. Whole-cell recordings of transiently transfected HEK293 cells expressing either the mutant or the wild-type receptor showed that the new CHRNA2 mutation markedly increases the receptor sensitivity to acetylcholine, therefore indicating that the nicotinic alpha 2 subunit alteration is the underlying cause. CHRNA2 is the third neuronal cholinergic receptor gene to be associated with familial sleep-related epilepsies. Compared with the CHRNA4 and CHRNB2 mutations reported elsewhere, CHRNA2 mutations cause a more complex and finalized ictal behavior.
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PMID:Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. 1682 24

Sleep is traditionally considered a global process involving the whole brain. However, recent studies have shown that sleep depth is not evenly distributed within the brain. Sleep disorders, such as sleepwalking, also suggest that EEG features of sleep and wakefulness might be simultaneously present in different cerebral regions. In order to probe the coexistence of dissociated (wake-like and sleep-like) electrophysiological behaviors within the sleeping brain, we analyzed intracerebral electroencephalographic activity drawn from sleep recordings of five patients with pharmacoresistant focal epilepsy without sleep disturbances, who underwent pre-surgical intracerebral electroencephalographic investigation. We applied spectral and wavelet transform analysis techniques to electroencephalographic data recorded from scalp and intracerebral electrodes localized within the Motor cortex (Mc) and the dorso-lateral Prefrontal cortex (dlPFc). The Mc showed frequent Local Activations (lasting from 5 to more than 60s) characterized by an abrupt interruption of the sleep electroencephalographic slow waves pattern and by the appearance of a wake-like electroencephalographic high frequency pattern (alpha and/or beta rhythm). Local activations in the Mc were paralleled by a deepening of sleep in other regions, as expressed by the concomitant increase of slow waves in the dlPFc and scalp electroencephalographic recordings. These results suggest that human sleep can be characterized by the coexistence of wake-like and sleep-like electroencephalographic patterns in different cortical areas, supporting the hypothesis that unusual phenomena, such as NREM parasomnias, could result from an imbalance of these two states.
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PMID:Dissociated wake-like and sleep-like electro-cortical activity during sleep. 2171 89