Research progress of GABRG2 mutations and epilepsy / 中华神经科杂志

Epilepsy is a common chronic neurological disorder. The exploration of its pathophysiology has been one of the important directions in brain research. The GABA-ergic pathway mediated by GABA A receptors (GABA AR) plays a critical role in the development of epilepsy. Among all the GABA AR subunits, mutations in GABRG2 have been most frequently associated with epilepsy. By mainly influencing GABA AR trafficking and clustering at synapses, all of these mutations impair GABA-ergic inhibitory synaptic transmission to different extents, and cause epilepsy syndromes with different clinical phenotypes. This review will focus on the research progress of GABRG2 mutations and epilepsy, and provide the basis for precise diagnosis and individualized treatment of epilepsy patients.

Clinical analysis of 350 pregnant women with epilepsy / 中华神经科杂志

Objective To investigate the usage of antiepileptic drugs (AEDs),epileptic seizures,pregnancy outcomes and infant feeding practices among pregnant women with epilepsy,and provide scientific evidence for eugenics.Methods The clinical characteristics of 350 pregnant women with epilepsy from Shaanxi Provincial Epilepsy & Pregnancy Register from October 2012 to July 2016 were analyzed retrospectively.Results A total of 350 patients with 376 pregnancies were included in the final analysis.Among 376 pregnancies,272 pregnancies (72.3％) were under the treatment of AEDs.Of them,246 pregnancies (90.4％) were on monotherapy,26 (9.6％) on polytherapy.Only patients during 179 pregnancies (47.6％) took folic acid in the first trimester.Seizure frequency increased in patients during 123 pregnancies (32.7％),of whom patients during 43 pregnancies (35.0％) did not use AEDs.Although other patients during 80 pregnancies (65.0％) took AEDs,regular pharmacokinetic monitoring was absent.A total of 170 pregnancies (45.2％) attained seizure-free.Seizure frequency decreased in 42 pregnancies (11.2％) and remained unchanged in 24 pregnancies (6.4％).The rates of cesarean section and natural delivery were 43.8％ (158/361) and 56.2％ (203/361),respectively.Totally 4.5％ (17/376) pregnancies had adverse pregnancy outcome,and 1.9％ (7/376) had fetal malformations.The most common congenital malformation was heart malformation,which was observed in two offspring.One offspring developed dysostosis,one developed chromosome abnormality,and another developed cerebellum deformity.In addition,one twin developed conjoined deformities.Breastfeeding rate was 52.6％ (190/361).Conclusions In Shaanxi province,AEDs compliance,pharmacokinetic monitoring and usage rate of folic acid still need to be improved in pregnant women with epilepsy.Clinical trial registration Chinese Clinical Trial Registry,ChiCTR-OOC-16009277