![]() ![]() Experts in the field discussed the spectrum of NFLE and produced a final Consensus Statement based on a rigorous protocol addressing nomenclature, electro-clinical definition, diagnostic criteria with levels of certainty supported by available evidence, aetiology, and research needs. In 2014, a Consensus Conference was held in Bologna, Italy (Tinuper et al. In the following two decades, the clinical boundaries of the disorder were defined, however many controversial issues highlighted the need to change the nomenclature (Tinuper and Bisulli 2017). The disorder was therefore re-named Nocturnal Frontal Lobe Epilepsy (NFLE). 1990) proved the epileptic origin of the syndrome. ![]() 1987) and documentation of epileptiform discharges in some patients (Tinuper et al. Subsequently, similarity of the attacks to those in patients with frontal lobe epilepsy undergoing neurosurgical evaluation (Williamson et al. The surgical outcome seems to be relatively good in this population, especially in patients with positive brain MRI.įirst described in 1981 (Lugaresi and Cirignotta 1981), the condition was initially considered a new motor disorder of sleep, namely parasomnia, and the misleading term Nocturnal Paroxysmal Dystonia (NPD) was introduced. These data, showing the poor outcome after a long follow-up, possibly explain the reason why SHE has been reported in up to 10% of surgical series (Menghi et al. However, about one-third of patients are drug-resistant and only 22% achieved terminal remission after a median 16-year follow-up, most with a remitting pattern from disease onset (Licchetta et al., 2017). Most patients show a good response to the pharmacological treatment, low doses of carbamazepine at bedtime being the first choice of therapy. ![]() As a result, misdiagnosis is common and patients may be denied effective treatments or treated inappropriately, leading to long-term side effects and the social consequences of erroneous epilepsy diagnosis (e.g., impacts on driver’s licence). Distinguishing this condition from non-epileptic paroxysmal behaviour occurring physiologically or pathologically during sleep is often difficult and sometimes impossible on clinical grounds alone, even for experienced epileptologists and sleep physicians. However, the disorder is likely to be under diagnosed, or in some cases misdiagnosed. The estimated prevalence of non-familial SHE in the adult population is 1.8–1.9 per 100,000 (Vignatelli et al. So far, more than 100 families have been identified worldwide (Marini and Guerrini 2007 Steinlein 2014), but no accurate data concerning the prevalence of ADSHE exist. A familial form of SHE with autosomal dominant inheritance (ADSHE) has been described. This disorder affects individuals of both sexes and any age, with a peak of seizure onset during childhood and adolescence (Scheffer et al. SHE, formerly Nocturnal Frontal Lobe Epilepsy (NFLE), is a focal epilepsy characterized by hyperkinetic seizures occurring predominantly in clusters during non-REM sleep. This review will provide an exhaustive overview of the genetic background of SHE. The cholinergic system and the mTOR pathway are the most relevant. The causative genes for SHE are multiple and encode for proteins involved in different molecular pathways. Non-specific clinical features distinguished different aetiologies even if SHE due to structural lesions usually manifests with early-onset drug-resistant seizures and showed a worse long-term prognosis. Multiple aetiologies (structural-genetic) are also possible. Recognized aetiologies of SHE are heterogeneous and include acquired injuries, genetic causes and structural anomalies such as focal cortical dysplasia. ![]() This disorder, though uncommon, is of considerable interest to a broad spectrum of specialists, from child neurologists to neurosurgeons. SHE is a rare disease with an estimated minimum prevalence of 1.8/100,000 individuals and represent about 10% of drug-resistant surgical cases. Sleep-related hypermotor epilepsy (SHE), formerly known as Nocturnal Frontal Lobe Epilepsy is a focal epilepsy characterized by seizures with complex hyperkinetic automatisms and/or asymmetric tonic/dystonic posturing occurring mostly during sleep. ![]()
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