Hot water epilepsy (HWE) is a type of epilepsy that primarily affects children. This study was aimed to evaluate the clinical, electroencephalogram (EEG), neuroimaging findings, and treatment options in children with HWE. The medical records of 24 patients who had HWE were evaluated retrospectively. There were 2767 patients diagnosed with epilepsy during the seven-year period, and 0.86 % of the patients had HWE. The median age of the patients was three (range 1.2-7 years), with a male predominance (male/female ratio: 7.1). Six patients (25 %) had HWE with spontaneous seizures (HWESS) and 18 patients (75 %) had HWE alone (HWEA). 11 patients had focal onset seizures, 13 patients had generalized onset seizures. EEG abnormalities were found in 7 patients (29.2 %). Three patients (12.5 %) had nonspecific MRI findings. Developmental abnormalities (autism spectrum disorder, learning disability and speech disturbance.) were detected in 8 patients (33.3 %). Only one patient's (4.2 %) seizure could be controlled by changing bathroom habits. Twenty-three patients (95.8 %) were given antiepileptic drugs. 18 of 24 patients had come for follow-up visits for two years, nine of them used monotherapy and seizures did not recur. The treatment response was 55.5 %. Oxcarbazepine (8 patients, 33.3 %) and valproic acid (7 patients, 29.2 %) were the most chosen two drugs for HWE. The genetic tests performed were not accepted relevant to the patients' clinical conditions and epilepsy. The frequency of the HWE was not as high in the literature. Male predominance, EEG abnormalities may be seen. Changing bath room habits did not improve the treatment as a first line management, all the patients except one used antiepileptic drug treatment. Until now, there has been no study in Turkey showing the frequency of HWE exclusively in children.

Hot water epilepsy (HWE) is a type of reflex epilepsy triggered by bathing with hot water. Hot water epilepsy is generally considered as a self-limiting benign disease although its long-term course and prognosis remains unknown. In this study, we aimed to determine the long-term clinical course and prognosis of hot water epilepsy and possible factors affecting them. The diagnosis of HWE was made based on the clinical history obtained from patients and their first degree relatives witnessing to the seizures and video recordings of seizures if available; then, the type of seizure was identified. Good prognosis was defined as patients whose seizures were controlled with or without preventive measures and who did not require antiepileptic treatment. The poor prognosis was defined as patients whose seizures continued despite preventive measures and required antiepileptic treatment. The study included 50 (31 male and 19 female) patients with a mean follow-up of 17.63 ± 10.46 (median, 15.0) years. The age at onset of seizure was 14.52 ± 12.71 (median: 10.0) years. There were 38 (76%) patients in the good prognosis group. 18 (36%) of them achieved complete remission, who did not require preventive measures. In the remaining 20 (40%) patients, seizures could be controlled with only preventive measures. Seizures could be controlled with antiepileptic treatment in only 1 (2%) of 12 (24%) patients in the poor prognosis group. A significant relationship was found between the frequency of hot water seizures (HWSs) and poor prognosis (p = 0.019), as well as the presence of spontaneous seizures outside of bathing and poor prognosis (p = 0.000). Hot water epilepsy, as previously known, is not a self-limiting benign disease. Approximately ¾ of the cases have a good prognosis, but the rest are in the case of chronic epilepsy. The low response rate to antiepileptics' treatment suggests that the pathogenesis of the HWE may differ from other epilepsies.

To describe the clinical and genetic findings in a cohort of individuals with bathing epilepsy, a rare form of reflex epilepsy. We investigated by Sanger and targeted resequencing the SYN1 gene in 12 individuals from 10 different families presenting with seizures triggered primarily by bathing or showering. An additional 12 individuals with hot-water epilepsy were also screened. In all families with bathing epilepsy, we identified 8 distinct pathogenic or likely pathogenic variants and 2 variants of unknown significance in SYN1, 9 of which are novel. Conversely, none of the individuals with hot-water epilepsy displayed SYN1 variants. In mutated individuals, seizures were typically triggered by showering or bathing regardless of the water temperature. Additional triggers included fingernail clipping, haircutting, or watching someone take a shower. Unprovoked seizures and a variable degree of developmental delay were also common. Bathing epilepsy is genetically distinct reflex epilepsy caused mainly by SYN1 mutations.

The study attempts to characterize the clinical, demographic, risk factors, electroencephalographical, and neuroimaging features of hot-water epilepsy (HWE) in children. This is a hospital-based observational study in the pediatric neurology clinic and who met the clinical definition of hot-water epilepsy were studied from January 2017 to October 2018. Clinical history, demographic data, and examination findings were recorded in a pre-structured proforma. Electroencephalography (EEG) and neuroimaging were carried out. A total of 68 children with male to female ratio of 2.4:1 were studied. The most common age of onset of seizures was between 1 and 5 y. Focal seizures with impaired awareness were the most common semiology (48.5%). Abnormal EEG was detected in 13.2% and abnormal neuroimaging in 4.4% which consisted of incidental abnormalities. Nonreflex seizures occurred in 35.3% of the children with HWE and the risk factors associated with this were not statistically significant. Clobazam before taking bath helped to achieve seizure control in 85.7% of the children. Hot-water epilepsy should be suspected in children who develop seizures following a hot-water bath. The most common age of onset is 1-5 y. EEG and neuroimaging are normal in the majority of cases. Nonreflex seizures occurred in 35.3% of the children.