1 Some years later, further patients with complex motor attacks recurring every night during slow-wave sleep were reported typically, the attacks consisted of twisting of the trunk and violent hyperkinetic movements of the limbs, and they were occasionally associated with tonic/dystonic posturing. On the basis of the EEGs’ abnormalities and the favorable response to therapy, authors interpreted these episodes as epileptic manifestations, despite the fact that EEG recordings of two abortive attacks failed to correlate with any paroxysmal or other abnormal electrical activity. Four of these patients demonstrated epileptiform abnormalities in their electroencephalograms (EEGs). The episodes ceased after phenytoin or carbamazepine treatment. In 1977, Pedley and Guilleminault described an unusual type of sleepwalking in six patients all experienced episodes characterized by screaming, vocalization, complex automatisms and ambulation. For selected drug-resistant SHE patients, epilepsy surgery is the only treatment offering high probability of recovery, both for seizures and for epilepsy-related sleep alterations. Finally, recent studies suggest a poor prognosis in a high percentage of SHE patients with a 20.4% cumulative probability of achieving terminal remission at 10 years from onset. SHE may also exert a negative effect on health-related quality of life, especially in domains pertaining to a patient’s role in the family, social context and patient’s illness experience.ĭespite a good response to pharmacological treatment, especially with carbamazepine, 30% of SHE patients suffer from drug-resistant seizures. Intellectual disabilities and psychiatric disorders have also been reported in some genetic forms. Moreover, recent studies, adopting a systematic neuropsychological assessment, have shown deficits in memory, executive functions and visuo-spatial abilities in almost half of SHE patients. In fact, seizure frequency can be very high, resulting in nocturnal sleep fragmentation with possible diurnal consequences such as excessive sleepiness and fatigue. Although SHE and autosomal-dominant SHE (ADSHE) have been considered benign epileptic conditions for a long time, emerging data have shed light on the severity of this disorder and some peculiar features can impact negatively on the quality of life of SHE patients. SHE fulfills the definition of rare disease with an estimated minimum prevalence of 1.8/100,000 individuals, and it represents about 10% of drug-resistant surgical cases. Sleep-related hypermotor epilepsy (SHE), previously called nocturnal frontal lobe epilepsy (NFLE), is a focal epilepsy characterized by asymmetric tonic/dystonic posturing and/or complex hyperkinetic seizures occurring mostly during sleep.
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