![]() ![]() ![]() 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. 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. 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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