Abstract:
:Mutations of the voltage-gated sodium channel SCN8A have been identified in approximately 1% of nearly 1,500 children with early-infantile epileptic encephalopathies (EIEE) who have been tested by DNA sequencing. EIEE caused by mutation of SCN8A is designated EIEE13 (OMIM #614558). Affected children have seizure onset before 18 months of age as well as developmental and cognitive disabilities, movement disorders, and a high incidence of sudden death (SUDEP). EIEE13 is caused by de novo missense mutations of evolutionarily conserved residues in the Nav1.6 channel protein. One-third of the mutations are recurrent, and many occur at CpG dinucleotides. In this review, we discuss the effect of pathogenic mutations on the structure of the channel protein, the rate of recurrent mutation, and changes in channel function underlying this devastating disorder.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Wagnon JL,Meisler MHdoi
10.3389/fneur.2015.00104subject
Has Abstractpub_date
2015-05-15 00:00:00pages
104issn
1664-2295journal_volume
6pub_type
杂志文章,评审abstract::Background: Matrix metalloproteinases (MMPs) are pleiotropic enzymes involved in extracellular protein degradation and turnover. MMPs are implicated in the pathogenesis of many neurological diseases, including multiple sclerosis (MS). Objective: To search the level of MMPs in the cerebrospinal fluid (CSF) of MS patien...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01080
更新日期:2018-12-18 00:00:00
abstract::The combination of phasic and tonic neuromuscular processes are involved in the maintenance of normal upright posture. The latter is of particular importance in some pathologies, such as Parkinson's Disease (PD), which is known by one of its cardinal symptoms-tonic dysfunction (i.e., rigidity). Changes in tonic functi...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01130
更新日期:2019-01-21 00:00:00
abstract::Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive RGCs that mediate many relevant non-image forming functions of the eye, including the pupillary light reflex, through the projections to the olivary pretectal nucleus. In particular, the post-illumination pupil response (PIPR), as evaluated by ...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.01047
更新日期:2018-12-07 00:00:00
abstract::Alzheimer's disease is the most common neurodegenerative form of dementia that steadily worsens and eventually leads to death. Its set of symptoms include loss of cognitive function and memory decline. Structural and functional imaging methods such as CT, MRI, and PET scans play an essential role in the diagnosis proc...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00647
更新日期:2017-12-07 00:00:00
abstract::Shame and embarrassment related to Parkinson's disease (PD) are rarely addressed in clinical practice nor studied in neuroscience research, partly because no specific tool exists to detect them in PD. Objective: To develop a self-applied assessment tool of shame and embarrassment specifically related to PD or its trea...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00779
更新日期:2020-07-31 00:00:00
abstract::Myasthenia gravis (MG) is the most common autoimmune disorder affecting the neuromuscular junction, characterized by skeletal muscle weakness and fatigability. It is caused by autoantibodies targeting proteins of the neuromuscular junction; ~85% of MG patients have autoantibodies against the muscle acetylcholine recep...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2020.596981
更新日期:2020-11-30 00:00:00
abstract:BACKGROUND:Hemiparesis after stroke typically results in a reduced walking speed, an asymmetrical gait pattern and a reduced ability to make gait adjustments. The purpose of this pilot study was to investigate the feasibility and preliminary efficacy of home-based training involving auditory cueing of stepping in place...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00412
更新日期:2017-08-22 00:00:00
abstract::[This corrects the article DOI: 10.3389/fneur.2018.01033.]. ...
journal_title:Frontiers in neurology
pub_type: 已发布勘误
doi:10.3389/fneur.2020.00863
更新日期:2020-09-17 00:00:00
abstract::Recent advances in wearable sensor technology and machine learning (ML) have allowed for the seamless and objective study of human motion in clinical applications, including Parkinson's disease, and stroke. Using ML to identify salient patterns in sensor data has the potential for widespread application in neurologica...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.00996
更新日期:2019-09-18 00:00:00
abstract::We report a case of spontaneous intracerebral hemorrhage (sICH) due to delta storage pool disease in a 60-year-old female on a serotonin-norepinephrine reuptake inhibitor (SNRI). Increased susceptibility to SNRI-effects on hemostasis was due to a genetic disposition mediated by a polymorphism of the SLC6A4 gene coding...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.01257
更新日期:2019-11-26 00:00:00
abstract::The vestibular system plays a crucial role in the multisensory control of balance. When vestibular function is lost, essential tasks such as postural control, gaze stabilization, and spatial orientation are limited and the quality of life of patients is significantly impaired. Currently, there is no effective treatmen...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2014.00066
更新日期:2014-04-29 00:00:00
abstract::Objectives: This study aimed to assess the efficacy of minocycline for the treatment of acute ischemic stroke. Background: While there have been meta-analysis that surveyed the efficacy of minocycline in the treatment of acute stroke, they have some methodological limitations. We performed a new systematic review whic...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.01103
更新日期:2018-12-20 00:00:00
abstract::Cerebral cortical microinfarct (CMI) is common in patients with dementia and cognitive decline. Emerging studies reported that intestinal dysfunction influenced the outcome of ischemic stroke and that vagus nerve stimulation (VNS) protected against ischemic stroke. However, the effects of intestinal dysfunction and VN...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00798
更新日期:2018-09-26 00:00:00
abstract::Background: Disorders of consciousness are challenging to diagnose, with inconsistent behavioral responses, motor and cognitive disabilities, leading to approximately 40% misdiagnoses. Heart rate variability (HRV) reflects the complexity of the heart-brain two-way dynamic interactions. HRV entropy analysis quantifies ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00769
更新日期:2018-09-12 00:00:00
abstract::Objective: As a recently defined disease entity, vestibular migraine (VM) is a variant of migraine with broad spectrum of manifestations. We evaluated a prospective cohort of patients with VM in two centers to assess severity of VM attacks and investigate its contributing factors in patients with VM. Methods: Adult pa...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.595328
更新日期:2020-12-16 00:00:00
abstract::Background and Objective: Parkinson disease (PD) with rapid eye movement (REM) sleep behavior disorder (PD-RBD) tend to be a distinct phenotype with more severe clinical characteristics and pathological lesion when compared with PD without RBD (PD-nRBD). However, the pathological mechanism underlying PD-RBD remains un...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.563624
更新日期:2020-10-27 00:00:00
abstract::There is currently no therapeutic drug treatment for traumatic brain injury (TBI) despite decades of experimental clinical trials. This may be because the mechanistic pathways for improving TBI outcomes have yet to be identified and exploited. As such, there remains a need to seek out new molecular targets and their d...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2015.00178
更新日期:2015-09-02 00:00:00
abstract::The Boston Carpal Tunnel Questionnaire (BCTQ) is a scale that has been developed specifically for carpal tunnel syndrome (CTS). It consists of the Functional Status Scale (FSS) and the Symptom Severity Scale (SSS). It is the most widely used patient reported outcome measure in CTS and has been validated in many langua...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01154
更新日期:2019-11-07 00:00:00
abstract::Current efficacious treatments for traumatic brain injury (TBI) are lacking. Establishment of a protective gut microbiota population offers a compelling therapeutic avenue, as brain injury induces disruptions in the composition of the gut microbiota, i.e., gut dysbiosis, which has been shown to contribute to TBI-relat...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2019.00875
更新日期:2019-08-16 00:00:00
abstract::Immune-mediated pathology has been thought to be an important factor contributing to Duchenne muscular dystrophy (DMD). Allele frequencies of certain HLA types are known to differ between patients with dystrophinopathies and healthy controls with low-resolution HLA gene typing data in limit reports. Using Polymerase c...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00970
更新日期:2018-11-15 00:00:00
abstract::Periodontitis is an oral inflammatory disease and may contribute to low-grade systemic inflammation. Based on the contribution of periodontitis to systemic inflammation and the potential role of systemic inflammation in neuroinflammation, many epidemiological studies have investigated a possible association between pe...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00323
更新日期:2019-04-24 00:00:00
abstract::Background: In people with multiple sclerosis (MS), optic neuritis (ON) results in inner retinal layer thinning, and reduced density of the retinal microvasculature. Objective: To compare inter-eye differences (IEDs) in macular optical coherence tomography (OCT) and OCT angiography (OCTA) measures in MS patients with ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.618879
更新日期:2020-12-15 00:00:00
abstract::Anticoagulation is highly effective in preventing stroke due to atrial fibrillation, but numerous studies have demonstrated low utilization of anticoagulation for these patients. Assessment of clinicians' attitudes on this topic indicate that fear of intracerebral hemorrhage (ICH), rather than appreciation of anticoag...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00137
更新日期:2013-10-04 00:00:00
abstract::Background: The forefront treatment of Parkinson's disease (PD) is Levodopa. When patients are treated with Levodopa cerebral blood flow is increased while cerebral metabolic rate is decreased in key subcortical regions including the putamen. This phenomenon is especially pronounced in patients with Levodopa-induced d...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2019.01217
更新日期:2019-11-21 00:00:00
abstract::Intensive glycemic control has not shown consistent findings in stroke prevention for diabetes patients, particularly for those with microvascular complications. This case-control study evaluates the risks of stroke in Asian diabetic population with microvascular complications. From the insurance claims of Taiwan, we ...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00719
更新日期:2018-08-29 00:00:00
abstract::This review article provides a general perspective of the experimental and clinical work surrounding the role of type-I, type-II, and type-III interferons (IFNs) in the pathophysiology of brain and spinal cord injury. Since IFNs are themselves well-known therapeutic targets (as well as pharmacological agents), and ant...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00458
更新日期:2018-06-19 00:00:00
abstract:BACKGROUND:Sudden unexpected death in epilepsy (SUDEP) is common among young people with epilepsy. Individuals who are at high risk of SUDEP exhibit regional brain structural and functional connectivity (FC) alterations compared with low-risk patients. However, less is known about network-based FC differences among cri...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2017.00544
更新日期:2017-10-16 00:00:00
abstract::α-synuclein is involved in the pathogenesis of multiple system atrophy (MSA) and can be regulated by peripheral immune activation (PIA). We aimed to clarify the correlations between PIA and the prevalence of MSA and to analyze the role of PIA in the progression of the disease. A total of 321 patients with probable MSA...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.00658
更新日期:2020-07-07 00:00:00
abstract::Poststroke depression (PSD) is the most prevalent psychiatric disorder after stroke, which is independently correlated with negative clinical outcome. The identification of specific biomarkers could help to increase the sensitivity of PSD diagnosis and elucidate its pathophysiological mechanisms. The aim of current st...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00577
更新日期:2018-07-16 00:00:00
abstract::Objectives: This article aims to evaluate the safety and effectiveness of endoscope-assisted surgery for chronic subdural hematoma (cSDH) in comparison with the burr-hole craniostomy. Methods: An electronic literature research was performed in MEDLINE, the Cochrane library, and EMBASE from the inception to February 18...
journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2020.540911
更新日期:2020-11-05 00:00:00