This targeted review addresses the best accepted and most intriguing recent observations on the complex relationships between sleep and epilepsy. Ten to 15% of all epilepsies are sleep-related. Included in these is sleep-related hypermotor epilepsy, renamed from nocturnal frontal lobe epilepsy by a 2016 consensus conference since 30% of cases are extra-frontal, seizures are related to sleep rather than clock time, and the predominant semiology is hypermotor. Stereo-EEG is providing crucial insights into network activation in sleep-related epilepsies and definition of the epileptogenic zone. Pathologic high-frequency oscillations, a promising biomarker for identifying the epileptogenic zone, are most frequent in NREM sleep, lowest in wakefulness and REM sleep, similar to interictal epileptiform discharges (IEDs). Most sleep-related seizures are followed by awakening or arousal and IEDs cause arousals and increase after arousals, likely contributing to sleep/wake complaints. Sleep/wake disorders are 2-3 times more common in adults with epilepsy than the general population; these comorbidities are associated with poorer quality of life and may impact seizure control. Treatment of sleep apnea reduces seizures in many cases. An emerging area of research is in circadian biology and epilepsy. Over 90% of people with epilepsy have seizures with circadian periodicity, in part related to sleep itself, and the majority of SUDEP cases occur in sleep. Recognizing these bidirectional relationships is important for patient and caregiver education and counseling and optimizing epilepsy outcomes.
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http://dx.doi.org/10.1016/j.yebeh.2020.107735 | DOI Listing |
Nat Commun
December 2024
Nanobiology Institute, Yale University, West Haven, CT, USA.
Neurotransmitters are released from synaptic vesicles with remarkable precision in response to presynaptic calcium influx but exhibit significant heterogeneity in exocytosis timing and efficacy based on the recent history of activity. This heterogeneity is critical for information transfer in the brain, yet its molecular basis remains poorly understood. Here, we employ a biochemically-defined fusion assay under physiologically relevant conditions to delineate the minimal protein machinery sufficient to account for various modes of calcium-triggered vesicle fusion dynamics.
View Article and Find Full Text PDFNeurogastroenterol Motil
December 2024
Center for Neurointestinal Health, Massachusetts General Hospital, Boston, Massachusetts, USA.
Background: Cyclic vomiting syndrome (CVS) is defined by its episodic patterning. Furthermore, CVS is associated with other episodic disorders such as migraine and epilepsy. Indeed, many of the medications that are known to be useful for prophylaxis and abortive therapy in CVS are also effective in preventing and aborting migraines and seizures.
View Article and Find Full Text PDFGenet Med
December 2024
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK; Division of Clinical Medicine, University of Sheffield, Sheffield, UK. Electronic address:
Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.
View Article and Find Full Text PDFBMJ Neurol Open
December 2024
Department of Clinical and Experimental Epilepsy and Chalfont Centre for Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Cytojournal
November 2024
Department of Neurosurgery, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.
Objective: Potassium voltage-gated channel sub-family A member 1 (Kv1.1), as a shaker homolog potassium channel, displays a special mechanism for posttranscriptional regulation called RNA editing. Adenosine deaminase acting on RNA 2 (ADAR2) can cause abnormal editing or loss of normal editing, which results in cell damage and related diseases.
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