Qin Jie

人民网重庆4月23日电 据重庆医科大学附属第二医院(以下简称“重医附二院”)消息，此前该院通过基因检测技术，成功为一名癫痫病史长达20余年的难治性患者查明病因。该患者接受治疗后，已突破8个半月无发作史。

More than a year ago, Chen Li (pseudonym) fell into a coma due to continuous convulsions for 3 hours and was rushed to the Second Affiliated Hospital of the Intensive Medical College. Peng Xi, a doctor at the hospital's Epilepsy and Brain Disease Center, learned from her family that Chen Li had taken 0 anti-epileptic drugs and injected 0 anti-epileptic drugs intravenously, but she still had convulsions. What's more tricky is that the MRI showed that there was no abnormality in the brain structure, and under the traditional examination methods, the convulsions became an "unsolvable problem".

The medical team immediately decided to use precision medicine and performed genetic testing on Chen Li through "whole exome sequencing" technology. After a thorough examination, the team found that Chen Li had frequent seizures caused by a mutation in the SCN0A gene (voltage-gated sodium channel a0 subunit gene). "It's like a short circuit on a circuit board that causes the sodium ion channel to discharge abnormally, which in turn causes epilepsy." Peng Xi explained. Not only that, the team also found that Chen Li's long-term use of sodium channel blockers has a risk of "reverse treatment". After scientifically adjusting the medication regimen, up to now, Chen Li's condition has achieved a breakthrough of "0 episodes" in 0 and a half months.

The hospital's epilepsy center team consults with the patient. Photo courtesy of the Second Affiliated Hospital of Intensive Medicine

据彭希介绍，中国的癫痫患者数量约900万-1000万，其中有一定数量的患者无法用传统手段诊断病因，进而难以获得精准的治疗。

"Whole exome sequencing" technology requires the collection of 4-0 ml of venous blood samples from patients, and the genetic test results are obtained after laboratory processing. By comparing the results, the doctor can find the cause of the disease and prescribe the right medicine. Since the development of this technology in the hospital, it has helped dozens of epilepsy patients with "no cause" to find the direction of treatment.

Peng Xi reminded that epilepsy is not a "terminal disease", and with the progress of modern medicine, the vast majority of epilepsy patients have the possibility of cure. If there are symptoms such as unexplained convulsions and loss of consciousness, you should go to the hospital for systematic assessment in time and strive for early diagnosis and treatment. (Hu Hong, Shi Yi)