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Objective To evaluate the clinical and paraclinical features of Chinese patients with anti- LGI1 encephalitis. Methods Patients with memory deficits, psychiatric symptoms, seizures or altered level of consciousness, suspicious of encephalitis, at presentation to Peking Union Medical College Hospital were recruited between July 2013 and January 2018, and tested for anti-LGI1 antibodies in their serum and/or cerebrospinal fluid(CSF) samples. Patients with anti-LGI1 antibodies were enrolled. The demographic characteristics, clinical manifestations, laboratory examination results, neuroimaging features, immunotherapy, follow-up practices and outcomes for included patients were registered and analyzed. Results The study enrolled 120 patients, of whom 66.7% were male. The median age was 61 years (interquartile range [IQR]: 49-66 years). Seizures(65.0%) were the most common initial symptoms. Most patients developed seizures (95.0%), including faciobrachial dystonic seizures (54.2%), memory deficits (92.5%), and psychiatric symptoms (69.1%). Brain MRI and 18F-FDG PET / CT showed that the lesions were mainly located in unilateral or bilateral medial temporal lobes, and (or) basal ganglia. Of the patients, 95.0% received intravenous immunoglobulin (IVIg) or corticosteroids, 47.5% received mycophenolate mofetil as long-term immunotherapy, and no one received second-line immunotherapy. The median follow-up was 34.2 months(IQR: 22.0-45.6 months). 91.2% had a good outcome (modified Rankin Scale score≤2 points). Residual mild memory deficits were present in 47.8% of the patients. Nine deaths were documented. Relapses occurred in 24.8% of the patients in the first year. In total, 24 (20%)cases were young patients(onset age ≤45 years).There were fewer males among the younger patients(37.5% vs. 74.0%, P < 0.01). Besides, there were fewer younger patients with psychiatric symptoms(50.0% vs. 74.0%, P=0.02), hyponatremia(33.3% vs. 68.8%, P < 0.01), and abnormalities on brain 18F-FDG PET/CT(20.8% vs. 47.9%, P=0.02). The relapse-free survival rate was significantly higher in the young patients. Conclusions Elderly males were predominant in patients with anti-LGI1 encephalitis. Most patients developed symptoms of limbic encephalitis and/or FDBS during the disease course. Several patients were young adults and lacked typical symptoms. Neuroimaging features were consistent with the involvement of limbic system or basal ganglia. Patients with anti-LGI1 encephalitis respond well to immunotherapy, irrespective of the age.

Summary: GABA(B) receptor1 (GABABR1) gene is one of the susceptibility genes for temporal lobe epilepsy (TLE). Recently, it is reported that the GABABR1 polymorphism (G1465A) conferred a highly increased susceptibility to TLE. We performed a case-control study to confirm the findings. The study included a total of 112 nonlesional TLE patients and 124 controls of Chinese ancestry. Our study did not show any polymorphism in this locus, and suggested this polymorphism may not be a strong susceptibility factor for TLE among Chinese population. [Copyright &y& Elsevier]

Objective: To explore the lateralizing value of dystonic posturing (DP) of upper limb in patients with refractory mesial temporal lobe epilepsy (MTLE)., Methods: Presurgical videotypes of 89 patients staying seizure-free for at least 2 years after temporal lobectomy were retrospectively reviewed. Attention was paid to temporal correlation between occurrence of DP and seizure and the relationship of DP to side of epileptogenic zone (resected side)., Results: DP was observed in 92 complex partial seizure (CPS) from 37 (41.6%) patients among 89 patients with a total of 424 CPS. DP was not an initial symptom in the course of CPS and its onset occurred mostly in the middle third of ictus. DP displayed a high positive predictive value of 93.9% for lateralizing a contralateral seizure onset., Conclusion: DP is a reliable lateralizing sign in patients with MTLE.

Purpose: Temporal lobe epilepsy with hippocampal sclerosis (TLE-HS+) is one of the most common medically intractable epilepsies. Although the pathogenesis of HS+ still remains highly controversial, genetics may play a role as a predisposing factor. Previous evidence in a Japanese population shows that the homozygotes for allele 2 at position -511 of the interleukin (IL)-1 beta gene promoter region (IL-1 beta-511*2/2) confers susceptibility to the development of HS. However, this result has not been confirmed in populations of European ancestry. Given that the discrepancy may be attributed to ethnic differences, our aim in this study was to test the validity of a previous report in another Asian population., Methods: This study consisted of total 112 nonlesional TLE patients of Chinese ancestry, and 115 ethnically matched control subjects. A 304-base pair fragment in position of IL-1 beta-511 was amplified by polymerase chain reaction (PCR). The PCR products were digested with restriction enzyme AvaI, and run on a 12% polyacrylamide gel. We compared the frequency of this gene variation among 67 refractory TLE-HS+ patients, 45 patients without HS (TLE-HS-), and normal control subjects., Results: The heterozygous type (-511*1/2) is the most common genotype in our patient groups and controls. Allele 1 (-511C) and allele 2 (-511T) showed equal frequency ( approximately 50%), which is similar to that (46%) in Japanese. Analysis of genotype and allele distribution showed no significant difference among the three groups (p > 0.05)., Conclusions: In contrast with the lower frequency in the white population (35 and 34%) and higher rate in the population of African ancestry (60%), the allele -511T frequency in our present study is approximately 50%, indicating differences in the distribution of allele frequencies in IL-1 beta-511 among different ethnic groups. In this Chinese population, however, we still did not find a strong association between IL-1 beta-511 polymorphism and the development of HS.