![]() ![]() Some people with ADNFLE also have seizures during. The presented case extends the list of SHE-related genes to include TSC1, thus suggesting a central pathogenic role of mammalian target of rapamycin (mTOR) cascade dysfunction in SHE and introducing a possible use of mTOR inhibitors in this epileptic syndrome. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. We report the case of a 5-year-old female carrying the TSC1 variant c.843del p.(Ser282Glnfs*36) who presented with a mild phenotype of tuberous sclerosis, including carbamazepine-responsive SHE, normal neurocognitive functioning, hypomelanotic macules, no abnormalities outside the central nervous system, and tubers at neuroimaging. Objective: Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy characterized by seizures occurring mostly during sleep, ranging from brief seizures with. The role of various genes ( CHRNA4, CHRNB2, CHRNA2, KCNT1, DEPDC5, NPRL2, NPR元, and PRIMA1) has previously been reported, though genetic etiology is assessed in less than 10% of cases. They comprise a spectrum of manifestations of increasing intensity from confusional arousals to sleep terrors to sleepwalking. Sleep-related hypermotor epilepsy (SHE) is a rare syndrome that presents with hyperkinetic asymmetric tonic/dystonic seizures with vegetative signs, vocalization, and emotional facial expression, mainly during light non-rapid eye movement sleep stages. 1 Altmetric Metrics Abstract Disorders of Arousal (DOA) are mental and motor behaviors arising from NREM sleep. Seizures are typically abrupt in onset and offset and tend to increase in complexity and duration during the night. It was recommended that the name be changed to sleep-related hypermotor epilepsy (SHE), reflecting evidence that the attacks are associated with sleep rather than time of day, the seizures may arise from extrafrontal sites, and the motor aspects of the seizures are characteristic. It is characterized by hypermotor seizures occurring mainly during sleep. Buy Article Permissions and Reprints Abstract Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a rare heritable form of epilepsy. ![]()
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