Abstract：
:Benign familial neonatal convulsions (BFNC) are a rare autosomal dominant inherited epilepsy syndrome. Two voltage-gated potassium channel genes, KCNQ2 on chromosome 20q13.3 and KCNQ3 on chromosome 8q24, have been identified as the genes responsible for benign familial neonatal convulsions. By linkage analysis and mutation analysis of KCNQ2 gene, we found a novel frameshift mutation of KCNQ2 gene, 1931delG, in a large Chinese family with benign familial neonatal convulsions. This mutation is located in the C-terminus of KCNQ2, in codon 644 predicting the replacement of the last 201 amino acids with a stretch of 257 amino acids showing a completely different sequence. An unusual clinical feature of this family is that the seizures of every patient did not remit until 12 to 18 months. This is the first report of KCNQ2 gene mutation in China.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Tang B,Li H,Xia K,Jiang H,Pan Q,Shen L,Long Z,Zhao G,Cai Fdoi
10.1016/j.jns.2004.03.001subject
Has Abstractpub_date
2004-06-15 00:00:00pages
31-4issue
1-2eissn
0022-510Xissn
1878-5883pii
S0022510X04000668journal_volume
221pub_type
杂志文章abstract：:The hippocampus is generally believed to be only rarely affected in Creutzfeldt-Jakob disease. In a systematic study of the hippocampus in 6 cases of Creutzfeldt-Jakob disease, the stratum moleculare-lacunosum showed a definite spongiform change with gliosis in 5 cases. The stratum radiatum et pyramidale showed spongi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(87)90003-7
更新日期：1987-12-01 00:00:00
abstract：:The production of interleukin-1 (IL-1) and interleukin-2 (IL-2) by peripheral blood mononuclear cells (PBM) was assessed in multiple sclerosis (MS) patients in relapse, chronic progressive MS patients, patients with other neurological diseases (OND) and healthy subjects. Production was defined as the level of IL-1 and...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(88)90036-6
更新日期：1988-05-01 00:00:00
abstract：:Though the etiology of Parkinson's disease (PD) is unresolved and may be heterogeneous involving both environmental and genetic factors, there are indications that oxidative stress plays an important role in dopaminergic neuronal death. And, it has been reported that inhibition of nitric oxide synthase (NOS) can preve...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(01)00666-9
更新日期：2002-02-15 00:00:00
abstract：BACKGROUND:Intravenous rt-PA is effective in hyperacute ischemic stroke (HAIS) but is administered only in few patients. OBJECTIVES:To report the thrombolysis rate in our stroke unit using a stroke code (SC) protocol with a prenotification system and to analyze the SC impact on the thrombolysis rate in a systematic re...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析
doi：10.1016/j.jns.2011.10.009
更新日期：2012-03-15 00:00:00
abstract：:Autoimmune mechanisms are thought to have a major role in the pathogenesis of multiple sclerosis (MS) and vitamin D is hypothesised to contribute to disease susceptibility. Cow's milk allergy (CMA) is a common childhood allergy arising from an immune system imbalance and can also lead to vitamin D deficiency due to da...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2009.10.021
更新日期：2010-04-15 00:00:00
abstract：:A 53-year old woman developed slowly progressive dysarthria, mild enlargement of the tongue and dysphagia since 1 year ago. All neurological differential diagnoses that could have explained the bulbar symptoms were excluded. The swallowing sequence was pathologic and immunoglobulins were markedly reduced. A bone marro...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05326-9
更新日期：1997-04-15 00:00:00
abstract：INTRODUCTION:The B-cell chemoattractant CXCL13 has been suggested as a cerebrospinal fluid (CSF) biomarker for Lyme neuroborreliosis (LNB). Our aim was to substantiate the value of CXCL13 in a large unselected cohort and determine a practical cut-off value to diagnose LNB. METHODS:We retrospectively studied clinical a...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2020.116843
更新日期：2020-07-15 00:00:00
abstract：OBJECTIVE:Physical fitness is an important correlate of structural and functional integrity of the brain in healthy adults. In heart failure (HF) patients, poor physical fitness may contribute to cognitive dysfunction and we examined the unique contribution of physical fitness to brain structural integrity among patien...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.02.015
更新日期：2013-05-15 00:00:00
abstract：:An 83-day-old male infant had convulsions, hypertrophic cardiomyopathy, and lactic acidosis. Cranial computed tomography revealed low-density areas in both parieto-occipital lobes and in the left temporal lobe. Muscle biopsy did not reveal ragged-red fibers, but abnormal mitochondria were found in the capillary endoth...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90280-k
更新日期：1991-05-01 00:00:00
abstract：:Traumatic brain injury (TBI) is a major cause of disability or death worldwide, especially in the young. Thus, effective medication with few side effects needs to be developed. This work aimed to explore the potential benefits of formononetin (FN) on TBI rodent model and to discuss the regarding mechanism. These findi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.12.027
更新日期：2014-03-15 00:00:00
abstract：:We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and card...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(94)90133-3
更新日期：1994-12-01 00:00:00
abstract：OBJECTIVE:Although there is evidence for a pathogenic role of humoral factors in multifocal motor neuropathy (MMN), plasma exchange (PE) is assumed to be an ineffective treatment. We set out to elucidate possible reasons for this apparent contradiction. METHODS:A retrospective analysis of seven patients with MMN, who ...
journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
doi：10.1016/j.jns.2008.02.022
更新日期：2008-08-15 00:00:00
abstract：:The mitochondria have several important functions in the cell. A mitochondrial dysfunction causes an abatement in ATP production, oxidative damage and the induction of apoptosis, all of which are involved in the pathogenesis of numerous disorders. This review focuses on mitochondrial dysfunctions and discusses their c...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,评审
doi：10.1016/j.jns.2007.01.033
更新日期：2007-06-15 00:00:00
abstract：:Arteriolosclerotic leucoencephalopathy in the elderly (ALE) is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts. Moderate and severe lesions are diffuse areas of demyelination...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(90)90180-u
更新日期：1990-08-01 00:00:00
abstract：:The expression of class II antigen was studied in sural nerve biopsies from patients with peripheral neuropathies. These included patients with chronic demyelinating polyradiculoneuropathy (CIDP), non-immune mediated neuropathies of diverse etiologies and controls without evidence of neuropathy. The major finding in C...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(91)90065-f
更新日期：1991-04-01 00:00:00
abstract：BACKGROUND:This meta-analysis evaluated feasibility and efficacy of long-term whole-body vibration (WBV) training in improving mobility of multiple sclerosis (MS) patients. METHODS:The primary search of this meta-analysis was conducted from four electronic databases (PubMed, Sport, CINAHL and Cochrane) in order to fin...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2015.09.357
更新日期：2015-11-15 00:00:00
abstract：:Dementia of the Alzheimer type (DAT) and vascular dementia (VaD) are the two major subtypes of dementia. In our epidemiological study of DAT in an Arab community in Wadi Ara, Israel, we found a high prevalence of late onset DAT. Illiteracy, smoking, diabetes mellitus (DM) and hypertension are very frequent in Wadi Ara...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(02)00269-1
更新日期：2002-11-15 00:00:00
abstract：BACKGROUND AND PURPOSE:It is unclear whether acute ischemic stroke exhibits a seasonal pattern in Japan. The aim of the present study was to elucidate seasonal differences in acute ischemic stroke. METHODS:Our study enrolled 12,660 patients with ischemic stroke (7943 men, 4717 women; mean age, 70.1 years, S.D. 11.5; m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2004.07.002
更新日期：2004-10-15 00:00:00
abstract：INTRODUCTION:This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires. METHODS:The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to indivi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2019.116642
更新日期：2020-03-15 00:00:00
abstract：:The excitotoxin kainic acid (10 nmol/microliter) was used to produce bilateral lesions in the nucleus basalis magnocellularis (NBM) of rats which provides extensive cholinergic innervation to the cerebral cortex. The behavioral effects of physostigmine, THA (9-amino-1,2,3,4-tetrahydroacridine hydrochloride) and NIK-24...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90041-5
更新日期：1989-03-01 00:00:00
abstract：BACKGROUND:Chorea is a common presenting feature of metabolic disorders, including nonketotic hyperglycemia in patients with type 2 diabetes mellitus, but rarely has been reported in diabetic ketoacidosis, hypothyroidism and vitamin B12 deficiency. METHODS:Review the literature for reported cases of chorea as a presen...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2014.04.038
更新日期：2014-07-15 00:00:00
abstract：BACKGROUND:In Alzheimer's disease, higher educational attainment is associated with fewer cognitive deficits despite similar pathological lesions. In animal models of Parkinson's disease (PD), enhanced levels of cognitive and physical stimulation can reduce motor deficits due to dopaminergic neuronal loss. Therefore, i...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2016.01.030
更新日期：2016-03-15 00:00:00
abstract：:We measured the CSF and plasma levels of glutamate, glutamine, aspartate (only in plasma), asparagine, glutamine, glycine and GABA in 31 patients with Parkinson's disease and in 45 matched controls. We used an ion-exchange chromatography method. When compared to controls, PD patients had similar CSF levels of glutamat...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(96)00115-3
更新日期：1996-09-15 00:00:00
abstract：:Hemichorea associated with carotid artery occlusive disease is extremely rare. It has been recently suggested that carotid artery stenosis should be considered in the differential diagnosis of chorea, even in the absence of a preceding stroke or transient ischemic attack. Although the pathophysiology of this condition...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2010.08.068
更新日期：2011-01-15 00:00:00
abstract：:We studied neurite regeneration in MRL-lpr/lpr mice, a murine model of systemic lupus erythematosus, using a culture system to investigate the influences of immunological abnormalities on neurons. The regeneration of cultured dorsal root ganglion (DRG) neurons from MRL-lpr/lpr mice was delayed compared with control MR...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/s0022-510x(96)05216-1
更新日期：1997-07-01 00:00:00
abstract：:Three of 4 adult patients with Marinesco-Sjögren syndrome (MSS; 2 males and 2 females, aged 26-31 years) in 2 families became non-ambulant because of slowly progressive muscular weakness rather than cerebellar ataxia. Other clinical features in these 4 patients were typical for MSS: bilateral cataracts from infancy, m...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(89)90010-5
更新日期：1989-01-01 00:00:00
abstract：:Experience with systemic or selective local administration of thrombolytic agents in pediatric ischemic stroke is limited to sporadic case reports, since patients of age less than 18 years were systematically excluded from randomised controlled trials. We report a case of childhood IS attributable to the terminal inte...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2008.07.018
更新日期：2008-12-15 00:00:00
abstract：:Diabetic nerve reveals a peculiar paradox between its physiological resistance to ischemia, in conducting impulses for longer than control nerve during ischemia, and its morphological liability to more severe pathological changes of nerve fiber when rendered ischemic. These paradoxical phenomena, however, have never b...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(93)90129-m
更新日期：1993-11-01 00:00:00
abstract：:MabQ113 is a monoclonal antibody raised against rat cerebellum which selectively strains Purkinje cells. Likewise, in mabQ113-immunoperoxidase stained sections of human cerebellum, deposits of reaction product are found only in the Purkinje cells. The dendritic arborizations, cell body, and axonal processes are immuno...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/0022-510x(85)90166-2
更新日期：1985-10-01 00:00:00
abstract：BACKGROUND:Dystonia is a neurological disorder characterized by involuntary twisting movements and postures. The neck is among the most commonly affected regions, and diagnosis can be made readily through a simple clinical evaluation. The goal of this study was to explore how long it took patients to receive a diagnosi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章
doi：10.1016/j.jns.2013.08.028
更新日期：2013-12-15 00:00:00
