Genetic epilepsy with febrile seizures plus (GEFS+) is a new type of genetic epilepsy syndrome with a marked hereditary tendency. Febrile seizure is the most common clinical symptom, followed by febrile seizure plus, and with/without absence seizures, focal seizures, and generalized tonic-clonic seizures. Results of the polymerase chain reaction (PCR), exon sequencing and single nucleotide polymorphism (SNP) analysis showed that the occurrence of GEFS+ is mainly related to the mutation of gamma aminobutyric acid type A receptor gamma 2 subunit (GABRG2), but its pathogenesis was still unclear. The main types of GABRG2 mutations include missense mutation, nonsense mutation, frameshift mutation, point mutation and splice site mutation. All these types of mutations can reduce the function of ion channels on cell membrane, but the degree and mechanism of dysfunction are different, which may be the main mechanism of epilepsy. This article will focus on the relationship between GEFS+ and the mutation types of GABRG2 in recent years, which is of great significance for clinical accurate diagnosis, anti-epileptic treatment strategy and new drug development.
ObjectiveTo study the clinical and EEG features, therapeutic response and prognosis of eyelid myoclonia-nonconvulsive status epilepticus (EM-NCSE) in children.MethodsCollected the clinical and EEG data of 3 children with EM-NCSE that were diagnosed in department of neurology in Qilu Children Hospital of Shandong university during the January in 2015 to August in 2016.Analysed the therapeutic response to antiepletic drugs(AEDs).ResultsAmong the three children, there were 2 girls and 1 boy.The age at the onset of the disease was from 6 to 10 years old.The average age of them is 8.67 years old.The clinical manifestations include mental confusion, dysphoria, winking and scrolling up the eyes.The typical vedio electroencephalography (VEEG) in the patients showed 3~6 Hz generalized spike and waves and polyspikes burst, especially in the frontal and the anterior temporal region.In addition, the eye closure and intermittent photic stimulation helped to induce discharges and clinical events as eyelid myoclonia (EM).ConclusionsEM-NCSE is one of the idiopathic and generalized epileptic disease and characterized by EM.Video EEG monitoring plays an important role in the diagnosis of this disease.The drugs of choice for treatment was diazepam.When the event was controlled, AEDs were effective for the following therapy.
ObjectiveTo report the clinical manifestations and genetic characteristics of a child with epilepsy caused by a de novo mutation in the HCN1 gene. MethodsThe clinical data and HCN1 gene mutation characteristics of a child with epilepsy admitted to our hospital in May 2020 were analyzed, and the relevant domestic and foreign literature were reviewed. ResultsA 7-month-old male child developed epileptic seizures for the first time, with various forms of seizures, beginning with atonic seizures, followed by febrile seizures, focal seizures, generalized tonic-clonic seizures, and absence seizures. During hospitalization, his cerebrospinal fluid (CSF), hematuria tandem mass spectrometry (HVMS), cranial imaging and other examinations showed no obvious abnormality. The results of genetic testing showed that there was a heterozygous missense mutation c.839A>C (p.Gln280Pro) in the second exon region of the HCN1 gene of the child, and neither of his parents carried the mutation, suggesting that the mutation is novel. According to the guidelines of America Society of Medical Genetics and Genomics (ACMG), the variation was rated as likely pathogenic. The child was diagnosed with HCN1 gene mutation-related epilepsy and was treated with a combination of levetiracetam and sodium valproate. The child’s epilepsy was well controlled and discharged when his condition was stable. Following up to now after discharge, the patient is prone to convulsions during the course of febrile disease, but his growth and development level is normal. Literature review shows that HCN1 gene mutation-related epilepsy is mainly de novo in patients, most of which are located in the 2nd and 4th exon regions. ConclusionsFor children with clinically unexplained early-onset epilepsy, gene sequencing should be performed as soon as possible to analyze possible genetic etiology, which will help confirm the diagnosis and guide treatment.
Objectives Retrospective analysis of the Tibetan convulsive status epilepticus (CSE) for the aetiology, prognosis and its influencing factors in Tibet area. Methods Through electronic patient record, making “epilepsy”, “status epilepticus ”, “epileptic seizure” as keywords, convulsive status epilepticus patients in the People’s Hospital of Tibet Autonomous Region hospitalized from January 2015 to December 2020 were retrospectively observed, gathering their clinical data and aided examinations furthermore, and the prognoses were returned by telephone, meanwhile the functional status of those patients was assessed by the modified rankin scale. and the causes differ in gender, age, out-of-hospital antiepileptic treatment, family history of epilepsy and history of epilepsy were analyzed. The prognostic factors were analyzed by logistic regression. Results A total of 2 254 hospitalized patients with epilepsy were retrieved, including 331 CSE patients aged 14~84 years, 219 males and 112 females. There were 36 lost calls, 62 CSE deaths (21.01%), and 4 adverse outcomes (non-death)(1.7%).There were statistically significant differences in etiology of CSE in different ages and history of epilepsy (P<0.05), but there were no statistically significant differences in gender, out-of-hospital antiepileptic treatment, progression of refractory status epilepticus and family history of epilepsy. Cerebrovascular disease was the main cause of CSE in people aged 45 and over (54 cases), while the main cause of CSE in people aged under 45 was unknown (104 cases).Among the patients with previous history of epilepsy, the highest proportion was unknown cause [117 cases (48.8%)]; Among patients without a history of epilepsy, cerebrovascular disease [34 cases (37.4)] was the most common cause of CSE. Multivariate logistic regression analysis of prognostic factors of CSE showed that gender, age, GCS and electrolyte disorder had statistically significant effects on the death of CSE patients (P<0.05), while altitude and their duration and other factors had no statistically significant effects on the death of CSE patients (P>0.05). ConclusionsCerebrovascular disease is the leading cause of CSE in people aged 45 and over. Male, advanced age, low GCS score at discharge, and electrolyte disorder were risk factors.
Febrile seizure is one of the most common emergencies in children, accounting for about 30% of all types of children, and the most common among children aged 6 months to 5 years. At the same time, children in this age group are at the peak of growth and development, and the content of various trace elements in the body is prone to abnormalities. At present, there are few related studies on febrile seizure and trace elements in children. This paper summarizes the related studies on febrile seizure and trace elements in order to provide theoretical guidance for the prevention and treatment of febrile seizure
Objective To explore the clinical efficacy of levetiracetam (LEV) in preventing recurrence of complex febrile seizures. Methods 100 children with complex febrile seizures who visited Wuxi Children's Hospital from January 2017 to January 2020 were randomly divided into two groups, observation group (n=50, treated with oral LEV), including 28 males and 22 females, with an average age of (1.57±0.42) years; control group (n=50, treated with oral diazepam), including 26 males and 24 females, with an average age of (1.58±0.39) years. The incidence of adverse reactions, the recurrence rate, EEG changes and neural development after the treatment in both groups were observed. Results After treatment, the incidence of adverse reactions in the observation group was 4.00%, which was significantly lower (P<0.05) than that in the control group (18%). The recurrence rate of the observation group was 2.00%, which was significantly lower (P<0.05) than that in the control group (14%). The incidence of abnormal EEG in the two groups after treatment was lower than that before treatment (P<0.05), but there was no significant difference between the two groups (P>0.05). The results of neurodevelopmental assessment in both two groups were in the normal range before and after treatment, and there was no significant change (P>0.05). Conclusions LEV is effective in the treatment and prevention of complex febrile seizures recurrence, with high safety, less adverse reactions and improved prognosis.