Surgical removal or destruction of the focal brain area is the main treatment for drug-resistant epilepsy, but it is not suitable for all patients. Epileptiologists in the United States have opted for a new type of palliative therapy called responsive neurostimulation (RNS). The RNS system continuously monitors the electrical activity of the brain in the area of possible seizures and places electrodes in the epileptic area to provide electrical stimulation when abnormal discharges are detected, stopping seizures. Controlled clinical trials have demonstrated the long-term effectiveness and safety of the RNS system, with continued improvement in seizure reduction rates over time. RNS system not only has a good effect on temporal lobe epilepsy and cortical functional area epilepsy, but also can dynamically monitor cortical EEG, so as to better understand the epilepsy status of each patient and provide personalized diagnosis and treatment. In this paper, the development history, structure, advantages and disadvantages of RNS system are reviewed, and its indications as palliative treatment for drug-resistant epilepsy are discussed.
ObjectiveTo analyze the clinical and genetic characteristics of ADGRV1 gene mutation epilepsy.MethodsA retrospective collection of 26 patients with epilepsy diagnosed and related gene sequencing was performed in the Affiliated Hospital of Jining Medical College from January 2018 to December 2018. Five epilepsy patients with ADGRV1 mutations were screened out, and their clinical characteristics and gene mutation characteristics were summarized.ResultsA total of 5 epilepsy patients with ADGRV1 mutation were collected, including 1 male and 4 females, with an average age of (7±5.83) years. Three patients had a family history of epilepsy, and the father of the other two patients had a history of febrile seizures. 2 cases showed generalized tonic-clonic seizures, and 3 cases showed partial seizures followed by generalized seizures. The results of genetic testing revealed 7 mutation sites in the ADGRV1 gene, of which one missense mutation site c.2039A>G has been reported in the literature. Two of the 5 patients underwent epilepsy surgery, and they were still treated with multiple anti-epileptic drugs for a long time after the operation, and the other 3 patients were treated with anti-epileptic drugs for a long time. At present, 4 out of 5 patients had seizures still not under effective control, and 1 case did not relapse after being followed up for nearly 1 year.ConclusionThe clinical features of epilepsy caused by ADGRV1 gene mutation are early onset, mainly manifested as general tonic-clonic seizures or partial seizures secondary to generalized seizures, accompanied by disturbance of consciousness during seizures. The combined treatment of anti-epileptic drugs and postoperative anti-epileptic drugs is less effective. Genetic testing can guide genetic counseling and assisted diagnosis.