ObjectiveTo analyze the clinical characteristics and corresponding genetic features of epilepsy related to fever sensitivity. MethodsRetrospectively review 29 children with epilepsy related to fever sensitivity who were diagnosed and treated in the Department of Pediatric Neurology of the Third Affiliated Hospital of Zhengzhou University from January 2017 to December 2022, with complete clinical data and underwent molecular genetic testing. Fill in the clinical data registration form in detail, and retrospectively summarize their clinical characteristics, electroencephalogram (EEG) manifestations, neuroimaging examinations, the selection of antiepileptic drugs, curative effects, and evaluate and follow up the developmental indicators. ResultsAmong the 29 children with epilepsy related to fever sensitivity, there were 13 males (44.8%) and 16 females (55.2%); 10 cases (34.5%) were Dravet syndrome, 3 cases (10.3%) were genetic epilepsy with febrile seizures plus (GEFS+), and 1 case (3.4%) was PCDH19 gene-related epilepsy. The age of onset ranged from 2 to 25 months. Among them, 19 cases (65.5%) had an onset age of 2 to 12 months, and 10 cases (34.5%) had an onset age greater than 12 months. In 1 case of GEFS+ child, all seizures occurred after fever, and in the other 28 children, afebrile seizures were present. The interval between the first febrile seizure and the appearance of afebrile seizures was 0.09 to 116 months; the age of appearance of afebrile seizures was 5 to 134 months. There were 6 cases (20.7%) with a single seizure type, and 23 cases (79.3%) with 2 or more seizure types. There were 24 cases (82.8%) with generalized tonic-clonic seizures, 9 cases (31.0%) with generalized tonic seizures, 18 cases (62.1%) with focal seizures, 4 cases (13.8%) with absence seizures, and 1 case (3.4%) with spasm seizures. 10 cases (34.5%) of children had status epilepticus, and 13 cases (44.8%) had cluster seizures. 16 cases (55.2%) of children had a positive family history, among which 8 cases (27.6%) had a family history of febrile seizures, and 11 cases (37.9%) had a family history of afebrile seizures/epilepsy; during the initial visit and follow-up, 22 cases (75.9%) were found to have developmental delays of varying degrees. Pathogenic/suspected pathogenic gene variants/copy number variants clearly related to epilepsy were detected in 20 cases, with a detection rate of 68.9%, including SCN1A gene variants (11 cases), GABRB2 gene variants (1 case), GABRG2 gene variants (1 case), PCDH19 gene variants (1 case), SPTBN1 gene variants (c.1081_c.1097delAACTTGGAAGTGCTGCTinsCA, 1 case), ASNS gene variants (c.146G>A, 1 case), copy number variants in the 4p16.3 region (3 cases), and copy number variants in the 16p11.2 region (1 case). Among them, the gene variants of SPTBN1 and ASNS are novel gene variants that have not been previously reported in China for epilepsy related to fever sensitivity. ConclusionEpilepsy related to fever sensitivity mostly occurs in infancy, with diverse seizure patterns, varying degrees of severity of clinical symptoms, often accompanied by status epilepticus and cluster seizures, and mostly combined with developmental delays of varying degrees. This study found that the gene variants of SPTBN1 and ASNS, which have not been previously reported in China, may be rare pathogenic genes for epilepsy related to fever sensitivity.
ObjectiveTo analyze the risk factors for electrical status epilepticus during sleep (ESES) in patients with self-limited epilepsy with centrotemporal spikes (SeLECTs) and to construct a nomogram model. MethodsThis study selected 174 children with SeLECTs who visited the Third Affiliated Hospital of Zhengzhou University from March 2017 to March 2024 and had complete case data as the research subjects. According to the results of video electroencephalogram monitoring during the course of the disease, the children were divided into non-ESES group (88 cases) and ESES group (86 cases). Multivariate logistic regression analysis was used to identify the risk factors for the occurrence of ESES in SeLECTs patients. ResultsThe multifactor Logistic regression analysis demonstrated that the EEG discharges in bilateral cerebral areas,types of seizure, epileptic seizures after initial treatment were the independent risk factors for the occurrence of ESES in SeLECTs. ConclusionBilateral distribution of electroencephalogram discharges before treatment, emergence of new seizure forms, and epileptic seizures after initial treatment are risk factors for the ESES in SeLECTs patients. The nomogram model constructed based on the above risk factors has a high degree of accuracy.