Clinical Study And Analysis Of ELP4Gene Polymorphisms In The Children With Benign Childhood Epilepsy With Centro-temporal Spikes

Benign Childhood Epilepsy with Centro-temporal Spikes (BECT) is a common childhood epilepsy syndrome, belonging to idiopathic focal epilepsy, with its certain characteristics of onset age, seizure forms and electroencephalogram (EEG) manifestation, and neurodevelopment and neuroimaging are basically normal, which usually has a favorable prognosis. Age of onset of BECT is between3to13years old.75percent of the seizures occur in NREM (non-rapid eye movement) period, mainly in the period just falling asleep or before awakening, usually lasting a few seconds to a few minutes. The main form of attack is feeling or focal seizures, mainly affecting unilateral face and oropharynx, sometimes involving limb or secondary generalized seizures. EEG shows central temporal spikes, scalable from one side to the opposite side, and the background rhythm to normal. Neuroimaging examination is normal.The diagnosis of BECT is based on clinical features and presentations of EEG. Carbamazepine and oxcarbazepine are the preferred first-line drugs. Episodes of infrequent, mild or nocturnal seizures, age of onset age close to natural remission can temporarily do not accept antiepileptic drug treatment.Studies of clinical features, EEG and drug treatment response and mechanism of BECT are of great value to the diagnosis, treatment and prognosis of the disease. In addition, genetics studies on BECT are mostly in Europe, and there are no large sample studies in Chinese. Considering the racial differences, genetics research of BECT in Chinese to explore the known mutations in European populations, is helpful to find susceptibility genes, and contributes to research pathogenesis of BECT. In this research,95patients with BECT were investigated to study the clinical manifestations, EEG characteristics and their response to anti-epilepsy drugs. To explore the association between ELP4gene rs986527polymorphisms with susceptibility of BECT, genotyping of ELP4gene rs986527in95patients with BECT and102healthy individuals were analyzed by polymerase chain reaction and gene sequencing methods. The study shows that almost patients with BECT are childhood, presenting partial seizures or partial seizures with secondary generalized seizures, whose EEG background activity is normal and discharges is limited in central, temporal regions. Sleep EEG also has the same abnormal discharge. Patients with BECT have normal psychomotor development, neurological and neuroimaging. No statistical difference in gene frequency of ELP4gene rs986527polymorphism site existed between BECT group and the control group and the ELP4gene rs986527polymorphism have no relation with BECT susceptibility. Objective:Benign childhood epilepsy with centro-temporal Spikes (BECT) is common idiopathic focal epilepsy syndrome in children, which is the main form of benign epilepsy of children with their unique characteristics presenting as orofacial symptoms, such as unilateral face, mouth twitching or mouth askew, sometimes involving ipsilateral limbs, or developing to secondary generalized seizures.BECT is closely related to sleep, mostly occurring during just sleep or about to wake up, which is mainly part of the movement class type seizures or partial seizures generalization generalized seizures, and some simple seizure is simple partial seizures seizures sport, which very few is expressed as complex partial seizures, such as oropharyngeal automatism (smack, swallowing, etc.). BECT is with characteristic EEG changes, showing normal background rhythm and central temporal spikes discharge, which can spread from one side to the opposite side with normal sleep cycle. The purpose of this study is to summarize the clinical and EEG features of BECT.Method:95patients with BECT were rolled as study subjects from Qilu Hospital of Shandong University with consent of patients and their guardians. Their clinical data, such as clinical manifestation, EEG presentation, neuroimaging examination and drug therapy response were collected.Result:The study shows that BECT is commonly prevalent during childhood, presenting as partial seizures or partial seizures with secondary generalized seizures during sleep. EEG examinations display normal activities, and the epileptic discharges are mainly localized to central and temporal regions, while the sleep EEG also shows aberrant electrical discharges. Neuroimaging examinations are generally normal. Most of the patients are sensitive to anti-epilepsy drugs (AEDs).Conclusion:BECT is benign epilepsy in children with characteristic clinical and EEG features and good drug reactions. Objective:Benign childhood epilepsy with centro-temporal spikes (BECT) is common idiopathic focal epilepsy syndrome in children, accounting for15to20percent of children’epilepsy, most occurring at3～13yeas old, tightly related to sleep onset, its main form being focal motor or sensory seizures or secondary generalized seizures, often disappearing spontaneously after the age of14.In recent years, scholars from foreign and home have found that benign childhood epilepsy with centro-temporal spikes is the main form of epilepsy in children, and that it has its own unique characteristics. EEG shows specific central temporal spikes, with a genetic predisposition, but the exact genetic mechanism is still under study. Current researchs on genetics BECT are mostly in European crowds, and there are no large sample studies in the Han people. Considering the racial difference, applying genetics research of BECT in people, and exploring the relationship of the known mutations in European and Chinese population, is helpful to find susceptibility genes in Chinese.Methods:95patients with BECT were rolled as study subjects from Qilu Hospital of Shandong University with consent of patients and their guardians. Their clinical data were compiled and peripheral venous blood was collected. Genotyping of ELP4gene rs986527in95patients with BECT and102healthy individuals was conducted using the polymerase chain reaction(PCR) and gene sequencing methods, to observe the difference loci frequency of ELP4gene rs986527polymorphism distribution to BECT patients and healthy controls.Results:No statistical difference was evident regarding the gene frequency of ELP4gene rs986527polymorphism site between BECT group and the control group(p=0.29, OR=1.24,95%CI:0.83～1.84).Conclusion:The ELP4gene rs986527polymorphism have no relation with BECT susceptibility.