cases, the most common pathology is focal cortical dysplasia. The first described mutation in SHE was found in genes coding for the neuronal nicotinic acetylcholine receptor. Since then multiple other genes have been identified including KCNT1, DEPDC5, NPRL2, NPRL3, PRIMA1, CABP4, CRH and others. In some cases, structural and genetic etiologies can coexist such as with mutations in DEPDC5. Diagnosis The condition may be difficult to diagnose and misdiagnosis is common. The subject may be unaware they have a seizure disorder. To others, the involuntary movements made during sleep may appear no different from those typical of normal sleep. People who have nocturnal seizures may notice unusual conditions upon awakening in the morning, such as a headache, having wet the bed, having bitten the tongue, a bone or joint injury, muscle strains or weakness, fatigue, or lightheadedness. Others may notice unusual mental behaviors consistent with the aftermath of a seizure. Objects near the bed may have been knocked to the floor, or the subject may be surprised to find themselves on the floor. Diagnosis is based on clinical history but often EEG and/or polysomnography is required. In many patients the EEG can also be unhelpful as seizures may originate from deep in the brain. Polysomnography can be helpful distinguishing SHE from parasomnias as they often arise from different stages of sleep. Treatment Like other forms of epilepsy, SHE can be treated with anti-seizure medications. Adequate control of seizures occur in approximately two-thirds of patients with anti-seizure medications while approximately one-third of patients do not appropriately respond. The relative efficacy of different medications has not been systematically investigated. Historically, low-dose carbamazepine has been the preferred medication for SHE and is often considered to be first-line. Other anti-seizure medications which have been studied for the treatment of SHE and found to have efficacy include: oxcarbazepine, topiramate, lacosamide and perampanel. Epilepsy surgery can be efficacious in refractory patients. In addition, there have been reports of successfully treating SHE due to mutations in CHRNA4 with nicotine patches. References Sources Epilepsy types Sleep disorders