Abstract：
INTRODUCTION:Alterations in SCN1A gene cause most cases of Dravet syndrome. This finding has increased scientific interest in the syndrome, helping to better define its clinical features and facilitating treatment. AIMS:To update the knowledge on Dravet syndrome and to discuss the role of the molecular studies in improving early detection and specific management of the syndrome. DEVELOPMENT:We review the current information on the causes, clinical and electrical characteristics, treatment and complications of Dravet syndrome. Special emphasis is made on early detection. CONCLUSIONS:The phenotype of Dravet syndrome is now better defined and early detection is already possible. As a consequence, it is now possible to use more specific antiepileptic drugs and to avoid harmful treatments. The benefits of better and prompter control of seizures and earlier cognitive interventions need to be demonstrated in prospective studies of children diagnosed in their first year of life.
journal_name
Rev Neuroljournal_title
Revista de neurologiaauthors
Sanchez-Carpintero Rsubject
Has Abstractpub_date
2011-06-01 00:00:00pages
681-8issue
11eissn
0210-0010issn
1576-6578pii
rn2010771journal_volume
52pub_type
杂志文章,评审abstract：:Facial emotion recognition refers to a person's interpretation of facial features of another to identify a particular emotional state. It is essential in human evolution and encompasses distinct neural networks. Facial emotion recognition is altered in most neurodegenerative diseases, but literature just focus on sing...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：10.33588/rn.6905.2019047
更新日期：2019-09-01 00:00:00
abstract：INTRODUCTION:Virtual reality allows the user to interact with elements within a simulated scene. In recent times we have been witness to the introduction of virtual reality-based devices as one of the most significant novelties in neurorehabilitation. AIM:To review the clinical applications of the developments based o...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2010-10-16 00:00:00
abstract：INTRODUCTION:The recent discovery of the dystrophin-associated complex of glycoproteins led to the delineation of sarcoglycanopathies, a phenotypically similar to dystrophinopathies group of clinically heterogeneous and progressive muscular dystrophies. The objective of this paper is to report the clinical, biochemical...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2001-04-01 00:00:00
abstract：:The evidence base from empirical studies is one of the elements, along with patients' preference and consideration of particular clinical state and circumstances, that should be taken into account in the process of clinical decision making. This paper provides an overview of the current evidence base for the treatment...
journal_title：Revista de neurologia
pub_type：
doi：
更新日期：2017-02-24 00:00:00
abstract：:The modern history of the treatment of multiple sclerosis is reflected during the last years with the advent of controlled clinical trials design to produce measurable outcomes utilizing MRI techniques and statistical analysis. Addressing in this form the use of disease modifying medications: immunomodulation with int...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-01-01 00:00:00
abstract：INTRODUCTION:Sciatic nerve paralysis is a rare entity in the newborn. Few reference in specialized tests indicate that in the majority of cases the sciatic palsy has been observed after misplaced injections into the buttocks. The prognosis is variable and appears to be better after umbilical vessel catheterization for ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1998-05-01 00:00:00
abstract：INTRODUCTION:Cerebrovascular accidents (CVA) are the third most common cause of death and are the main cause of permanent disability in the western world, where they also rank first as regards the loss of years of disability-adapted independent life. Ischaemic CVAs tend to present irreversible sequelae, which reduces t...
journal_title：Revista de neurologia
pub_type： 杂志文章,随机对照试验
doi：
更新日期：2007-11-01 00:00:00
abstract：INTRODUCTION:For the most part, what makes us different from other animal species is comprised within our brain. However, there is no single factor, no singular reason accounting for the difference between our brain and others; rather, differences appear multiple. DEVELOPMENT AND CONCLUSIONS:Here we perform an up-to-d...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2008-06-16 00:00:00
abstract：:It has been stated that findings in neonatal neurological examinations can play a role as a pointer to adverse developmental outcome. The description of the examinations, and their presence or absence differed among authors without clear reference to their physiological variability ranges. We approached the study of s...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2002-03-01 00:00:00
abstract：INTRODUCTION:The theory of memory consolidation, based on the work published by Georg Elias Muller and Alfons Pilzecker over a century ago, continues to guide research into the neurobiology of memory, either directly or indirectly. In their classic monographic work, they concluded that fixing memory requires the passag...
journal_title：Revista de neurologia
pub_type： 历史文章,杂志文章,评审
doi：
更新日期：2007-09-01 00:00:00
abstract：TITLE:Telemedicina en pediatría del neurodesarrollo durante la pandemia de COVID-19: experiencia en un hospital terciario. ...
journal_title：Revista de neurologia
pub_type： 信件
doi：10.33588/rn.7112.2020554
更新日期：2020-12-16 00:00:00
abstract：INTRODUCTION:Severe infection by SARS-CoV-2 has shown to entail an increased risk of thrombotic, especially venous, events. Central venous catheters have also been associated with an increased risk of thrombotic complications. Paradoxical embolism as an aetiological mechanism of ischaemic stroke should be considered in...
journal_title：Revista de neurologia
pub_type：
doi：10.33588/rn.7105.2020317
更新日期：2020-09-01 00:00:00
abstract：:Several predispocitional and genetic factors are thought to be involved in the etiology of Alzheimer s disease (AD). Except for age, there is no consensus among researchers about the factors that can best predict AD. Some studies have found that, older women, cerebrovascular risk factors (hypertension, ischemic heart ...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2003-07-16 00:00:00
abstract：INTRODUCTION:The retina is a neuronal membrane that covers the posterior part of the eye chamber and is formed by several layers. The retinal function can be synthesize as the light translation into nervous impulses in the optic nerve. MATERIAL AND METHODS:The ERG is the expression of the changes of the electrical pot...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1998-03-01 00:00:00
abstract：:Parkinson's disease is a neurodegenerative disorder associated with aging characterized by a motor extrapiramidal alteration secondary to the progressive death of dopaminergic neurons of the substantia nigra pars compacta. The cause of this neuronal loss remains unknown but post mortem studies on brains of parkinsonia...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-03-16 00:00:00
abstract：INTRODUCTION:Akinetic mutism is considered as an alteration of the motivational state of the person, which the patient is unable to initiate verbal or motor responses voluntary, even with preserved sensorimotor and surveillance functions. CASE REPORT:A 43 year-old male involved in a cerebellum arteriovenous fistula co...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2017-01-16 00:00:00
abstract：INTRODUCTION:Semantic dementia is a progressive, relatively selective disorder affecting the semantic system with involvement of the verbal and non-verbal functions. The clinical picture is well characterised despite the confusion that may be generated by the different ways of classifying it. AIM. To determine the clin...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-12-01 00:00:00
abstract：OBJECTIVE:A number of studies suggest the existence of 'oxidative stress' in the substantia nigra from parkinsonian patients. If 'oxidative stress' should be relevant in the pathogenesis of Parkinson's disease (PD), the consumption of antioxidant or prooxidant substances in the diet could theoretically influence the ri...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-10-16 00:00:00
abstract：:The term 'epileptic equivalent' has had different meanings in recent years, for both doctors and lawyers (who have copied their reports). Our interest is due to finding that in the jurisprudence of the Supreme Court that we have reviewed, these terms are still taken into consideration when passing judgement or declari...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：1999-03-01 00:00:00
abstract：INTRODUCTION:The advance in the achievement of effective therapies for multiple sclerosis (MS), the definition of appropriate therapeutic windows and to establish better diagnostic and prognostic biomarkers have become a challenging task for both researchers and clinicians. Some pitfalls in clinical trials might be rel...
journal_title：Revista de neurologia
pub_type： 指南,杂志文章
doi：
更新日期：2012-01-16 00:00:00
abstract：INTRODUCTION:Duchenne/Becker muscular dystrophy (DMD/B) is one of the commonest myopathies, with an incidence of 1/3,500 male live births. It is characterized by the slow degeneration of muscle fibres, so that the patient has become an invalid by the age of 10 years, followed by death from respiratory or cardiac failur...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-02-01 00:00:00
abstract：OBJECTIVES:We show the effectiveness of treatment with continuous intrathecal baclofen infusion in a case of hereditary generalized dystonia refractory to anticholinergics, tetrabenazine, pimozide, L-dopa, benzodiazepines and thalamotomy. CLINICAL CASE:A 26 years old female patient, when she was 11 years old began wit...
journal_title：Revista de neurologia
pub_type： 杂志文章
doi：
更新日期：2000-01-16 00:00:00
abstract：AIMS:The purpose of this study is to review different aspects of mitochondrial myopathies. DEVELOPMENT:Mitochondrial DNA is different to that found in the nucleus and is generally inherited through the mother. There are from 2 to 10 copies per mitochondrion and hundreds or thousands of mitochondria per cell. It contai...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-10-16 00:00:00
abstract：INTRODUCTION:Statins represent a group of pharmaceutical agents with proven effectiveness and scarce side effects; however, their widespread use increases the probability of the appearance of such adverse effects. DEVELOPMENT:We reviewed the articles that have been published on myotoxicity, neurotoxicity and other cas...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2008-07-01 00:00:00
abstract：INTRODUCTION:Sleep and epilepsy have strong reciprocal influences and this is true for all kinds of epilepsies. The interictal paroxysmal activity increases in slow wave sleep and the localization of the primary epileptogenic area is more reliable in paradoxical sleep. DEVELOPMENT:From a practical point of view, an al...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2004-01-16 00:00:00
abstract：OBJECTIVE:The author reviews the value of the electrophysiological techniques: electromyography (EMG), electroneurography or motor and sensitive nerve conduction velocity (MCV, SCV), brainstem auditory potentials (BAER), visual evoked potentials (VEP) and electroretinography (ERG), somatosensory evoked potentials (SEP)...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：1999-01-01 00:00:00
abstract：INTRODUCTION:Dreams are a universal human experience and studying them from the point of view of neuroscience, consciousness, emotions and cognition is quite a challenge for researchers. Thus, dreams have been addressed from a number of different perspectives ranging from philosophy to clinical medicine, as well as psy...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2012-07-16 00:00:00
abstract：AIM:To review the neurochemical features and therapeutic options for frontotemporal dementia (FTD). DEVELOPMENT:The main neurochemical alterations in FTD are the serotoninergic and dopamine depletion. In contrast with Alzheimer's and diffuse Lewy bodies disease, there are not significant alterations of the cholinergic...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2006-05-01 00:00:00
abstract：INTRODUCTION:Alpha interferons (IFN a) have been shown to be effective in patients with chronic active hepatitis C. IFN a treatment may be associated with neurologic complications, including peripheral neuropathy. CASE REPORT:We describe a patient with active hepatitis C treated with IFN a, who developed peripheral ne...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2002-10-01 00:00:00
abstract：INTRODUCTION:Unilateral isolated paralysis of the soft palate is a rare clinical entity. CASE REPORT:We describe the case of a 12 year old girl who presented acute dysphagia, a nasal voice and regurgitation of liquids into the nose. Exploration revealed right velopalatine insufficiency with normal gag reflex and phary...
journal_title：Revista de neurologia
pub_type： 杂志文章,评审
doi：
更新日期：2003-02-15 00:00:00
