Am J Med Genet B Neuropsychiatr Genet
October 2022
The pathogenesis of temporal lobe epilepsy (TLE) was originally considered to be acquired. However, some reports showed that TLE was clustered in some families, indicating a genetic etiology. With the popularity of genetic testing technology, eleven different types of familial TLE (FTLE), including ETL1-ETL11, have been reported, of which ETL9-ETL11 had not yet been included in the OMIM database.
View Article and Find Full Text PDFObjective: To compare and rank the efficacy and acceptability of new antiepileptic drugs (AEDs) for patients with focal drug-resistant epilepsy.
Methods: PubMed, EMBASE, Cochrane databases and Clinicaltrials.gov were systematically searched from their inception through January 1, 2020, to identify trials evaluating AEDs for focal drug-resistant epilepsy.
N-myc downstream-regulated gene 2 (NDRG2) has been implicated in the development of central nervous system and brain diseases such as brain tumors, ischemic stroke and neurodegenerative disorders. However, it remains unclear that the spatiotemporal distribution of NDRG2 in the human fetal brain. In this study, we examined the expression pattern of NDRG2 in different regions of human fetal brain at 16-28 gestational weeks (GWs) by using RT-PCR, western blot and immunohistochemistry.
View Article and Find Full Text PDFBackground: This study aimed to assess efficacy and safety of oxcarbazepine (OXC) oral suspension in pediatric patients aged 2-5 years with partial seizures (PS) and/or generalized tonic-clonic seizures (GTCS) in real-world clinical practice in China.
Methods: This 26-week, prospective, single-arm, multicenter, observational study recruited pediatric patients aged 2-5 years with PS or GTCS suitable for OXC oral suspension treatment based on physicians' judgments from 11 medical centers in China. Enrolled subjects started OXC oral suspension treatment as monotherapy or in combination with other antiepileptic drugs.
Objective: The objective of this study was to assess the electroclinical aspects and treatment of Han patients with juvenile myoclonic epilepsy (JME) in northern China.
Methods: One hundred fifty-six outpatients with JME from six epilepsy centers, between January 2011 and June 2012, were followed up for at least two years. They underwent twenty-four-hour video-EEG recording.
Objectives: Jeavons syndrome (JS) is one of the underreported epileptic syndromes and is characterized by eyelid myoclonia (EM), eye closure-induced seizures or electroencephalography (EEG) paroxysms, and photosensitivity. In the Western populations, it has been reported to be characterized by focal posterior, occipital predominant epileptiform discharges (OPEDs) or frontal predominant epileptiform discharges (FPEDs) followed by generalized EDs in both interictal and ictal EEG recordings. However, it is not clear if there are different clinical manifestations between OPEDs and FPEDs.
View Article and Find Full Text PDFAltered microRNA-205 (miR-205) expression has been found in glioma tissue samples and cell lines; however, the clinical significance of this is unclear. The aim of this study was to confirm the miR-205 expression pattern in human glioma and to investigate its clinical relevance. Quantitative reverse-transcription polymerase chain reaction assays showed that miR-205 expression was significantly lower in glioma tissues than in non-neoplastic brain tissues (P<0.
View Article and Find Full Text PDFIdiopathic hypereosinophilic syndrome (HES) is characterized by persistent hypereosinophilia ( ≥ 1500/mm(3)) with evidence of end-organ damage without a definite underlying cause. Hypereosinophilia-induced encephalopathy is a rare clinical syndrome. We present a male patient with idiopathic HES with distinctive encephalopathy who had hypereosinophilia for more than 6 months.
View Article and Find Full Text PDFSome antiepileptic drugs (AEDs) have been reported to aggravate generalized seizures. We have seen three children whose myoclonic seizures increased on starting treatment with Levetiracetam. In all seizures aggravation was temporally associated to the introduction of the drug.
View Article and Find Full Text PDFObjective: Epileptic patients have a higher relapse risk when EEGs before the initiation of anti-epileptic drug (AED) withdrawal show epileptiform activity. The purpose of this study is to assess the characteristics of ambulatory EEGs before the decision to withdraw AEDs and to clarify potential influencing factors for abnormal EEGs.
Methods: 214 epileptic patients were included in the study.
Zhongguo Dang Dai Er Ke Za Zhi
February 2010
Objective: Continuous spike-and-wave during slow wave sleep (CSWS) syndrome is one of the presentations of electrical status epilepticus during sleep (ESES). The purpose of this study was to investigate the characteristics of CSWS syndrome in children.
Methods: Between 2007 and 2009, a total of 778 nocturnal long-term or 24-hr video-EEG records were included.
Status epilepticus (SE) can cause severe neuronal loss and oxidative damage. As peroxisome proliferator-activated receptor gamma (PPARgamma) agonists possess antioxidative activity, we hypothesize that rosiglitazone, a PPARgamma agonist, might protect the central nervous system (CNS) from oxidative damage in epileptic rats. Using a lithium-pilocarpine-induced SE model, we found that rosiglitazone significantly reduced hippocampal neuronal loss 1 week after SE, potently suppressed the production of reactive oxygen species (ROS) and lipid peroxidation.
View Article and Find Full Text PDFWe used immunohistochemical methods to examine the distribution of the calcium channel alpha2 (CCalpha2) subunit in the chicken spinal cord and dorsal root ganglion (DRG) neurons and determine its relationship with calbindin-D28k (CB) in the DRG neurons. In the spinal cord, CCalpha2 subunit was detected in nerve terminals, which were observed as dot-like structures, and in laminae I, II, III and Lissauer's tract in the dorsal horn. In the DRG neurons, approximately 65% of the total neurons were CCalpha2 subunit positive, and most (86%) of these neurons were small to medium sized, suggesting that the CCalpha2 subunit and/or a complex of the CCalpha2 and delta subunits is possibly localized in a number of nociceptive neurons.
View Article and Find Full Text PDFActa Neurobiol Exp (Wars)
September 2007
Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi
June 2007
Aim: To analyze the different responses of NK cell subsets isolated from the patients with proceeding multiple sclerosis to interferon-beta.
Methods: NK cells were isolated from the patients' peripheral blood mononuclear cells, separated into two subsets: CD94/NKG2A-bright and CD94/NKG2A-dim and then sorted by flow cytometry. The two subsets were cultured with IFN-beta to evaluate CD94/NKG2A expression pattern and the corresponding cell proliferation and secreted IL-10 and TGF-beta.
Decreased sweat secretion is a primary side effect of topiramate in pediatric patients, but the mechanism underlying this effect remains unclear. This study aimed to better understand how topiramate decreases sweat secretion by examining its effect on the expression of carbonic anhydrase (CA) II and aquaporin-5 (AQP5), total CA activity, as well as on tissue morphology of sweat glands in mice. Both developing and mature mice were treated with a low (20 mg/kg/day) and high dose (80 mg/kg/day) of topiramate for 4 weeks.
View Article and Find Full Text PDFThe evolution of aquaporin-5 (AQP5) expression during postnatal development has not been defined in the sweat gland. Previous studies have suggested that AQP isoforms in several peripheral targets are regulated by a neural mechanism. We have examined, in rat sweat glands, the expression of AQP5 during postnatal development and the effects of denervation on AQP5 expression.
View Article and Find Full Text PDFNDRG2, one of the new N-Myc downstream-regulated gene (NDRG) gene families, is believed to be involved in cell growth event. However, the exact function is still unknown. Identification of the tissue or cell types expressing this gene in vivo will provide clues in clarifying its physiological roles.
View Article and Find Full Text PDFZhongguo Yi Xue Ke Xue Yuan Xue Bao
April 2006
Objective: To express the first three immunoglobulin-like domains of human stem cell factor receptor (c-Kit/Ig1-3) in E. coli and HEK293 ET cells and study their binding activity for stem cell factor (SCF).
Methods: In prokaryotic expression system, a double mutant form of c-Kit /Ig1-3 (c-Kit /Ig1-3(DM) was produced by overlap PCR and cloned into pET16b.