Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Objective: Type I sialidosis (ST-1) is a rare autosomal recessive inherited disorder. To date, there has been no study on ST-1 patients in mainland China.

Methods: We reported in detail the cases of five Chinese ST-1 patients from two centers, and summarized all worldwide cases.

[Clinical Characteristics of Autoimmune Disease with Dual Seropositive Antibodies of Leucine-rich Glioma Inactivated 1 and Contactin-associated Protein 2].

Objective To explore the clinical characteristics of autoimmune disease with dual seropositive antibodies of leucine-rich glioma inactivated 1(LGI1)and contactin-associated protein 2(Caspr2).Methods The clinical data of seven patients with dual seropositive LGI1 and Caspr2 antibodies who were admitted to the Neurology Department of Peking Union Medical College Hospital from July 2014 to December 2017 were retrospectively analyzed.Results Central,peripheral and autonomic nervous systems were all involved in the seven cases;100%(7/7)presented with insomnia,myokymia,neuropahic pain and hyperhydrosis;71%(5/7)showed memory decline or psychiatric and behavioral symptoms;57%(4/7)had urinary hesitation or constipation;and 43%(3/7)had seizure.

New-Onset Geriatric Epilepsy in China: A Single-Center Study.

Background: Few studies have been published on new-onset geriatric epilepsy especially in older Chinese people. This study was to have a comprehensive understanding of new-onset geriatric epilepsy and find a more reasonable diagnosis and management of epilepsy in older people.

Methods: One hundred and three patients with onset age 60 years and older were admitted between January 2008 and December 2016.

Real-time TCD-vEEG monitoring for neurovascular coupling in epilepsy.

Purpose: Recently, a novel multi-model monitor has been available, which integrates real-time signals of transcranial Doppler (TCD) and video-EEG (vEEG) into one workstation. We sought to test the feasibility of this device in detecting neurovascular coupling in patients with epilepsy.

Method: Cerebral blood flow velocity (CBFV) of bilateral middle cerebral arteries and vEEG during seizure episodes were recorded simultaneously in 12 patients (age 17-58 years) with partial epilepsies.

Mapping the spatio-temporal pattern of the mammalian target of rapamycin (mTOR) activation in temporal lobe epilepsy.

Growing evidence from rodent models of temporal lobe epilepsy (TLE) indicates that dysregulation of the mammalian target of rapamycin (mTOR) pathway is involved in seizures and epileptogenesis. However, the role of the mTOR pathway in the epileptogenic process remains poorly understood. Here, we used an animal model of TLE and sclerotic hippocampus from patients with refractory TLE to determine whether cell-type specific activation of mTOR signaling occurs during each stage of epileptogenesis.

ASIC1a polymorphism is associated with temporal lobe epilepsy.

Recent in vitro and in vivo data show that acid-sensing ion channel 1a (ASIC1a) activation enhances neuronal excitability in the hippocampus and neocortex, indicating that ASIC1a might play a role in the generation and maintenance of epileptic seizures. The aim of this study was to investigate association of the ASIC1a gene with temporal lobe epilepsy (TLE) for the first time. Six tag single-nucleotide polymorphisms (SNPs) of the ASIC1a gene were selected and genotyped using polymerase chain reaction-restriction fragment length polymorphism in 560 TLE patients and 401 healthy controls.

A polymorphism in CALHM1 is associated with temporal lobe epilepsy.

A recent study suggests that the P86L polymorphism (rs2986017) in the calcium homeostasis modulator 1 (CALHM1) gene interferes with calcium homeostasis and increases amyloid β (Aβ) levels. Moreover, in vitro and in vivo data show that both calcium homeostasis and high levels of Aβ play an important role in the induction and maintenance of epileptic seizures in hippocampus, indicating CALHM1 might play a potential role in pathophysiological pathways involved in temporal lobe epilepsy (TLE). The aim of this study was to investigate the genetic contribution of CALHM1 to TLE.

Reliability and validity of a Chinese version of the Impact of Pediatric Epilepsy Scale.

The Impact of Pediatric Epilepsy Scale (IPES) is an accurate, acceptable, and quick tool that assesses the impact of epilepsy on the child with epilepsy and his or her family. The aim of this study was to investigate its applicability in China. After multistage translation and cultural adaptation, the final Chinese version was administered to 110 parents of children with epilepsy to evaluate its validity, reliability, and sensitivity.

[Analysis of risk factors for prognosis of frontal lobe epilepsy].

Objective: To analyze the risk factors for the prognosis of frontal lobe epilepsy in order to predict the refractory frontal lobe epilepsy early, so as to provide theoretic basis for rational therapy early.

Methods: Forty-seven patients with medically refractory frontal lobe epilepsy and 92 patients with medically controllable epilepsy, totally 139 patients, underwent epidemiological savery, cranial CT or MRI, and video-electroencephalography (VEEG). Single factor analysis and Logistic stepwise regression analysis were done to analyze the relationship between the influential factors and the prognosis of disease.

[Characteristics of clinical manifestations and EEG of Lennox-Gastaut syndrome].

Objective: Lennox-Gastaut syndrome (LGS) is one of the most severe and refractory form of childhood epilepsy. The purpose of this study was to investigate the clinical and EEG characteristics of patients with LGS.

Methods: Sixty-two patients with LGS, including 37 males and 25 females, were followed-up regularly per three months or per six months, therapy was adjusted according to the changes in seizures and EEG, and the clinical data were analyzed in detail.