[Pyridoxine-dependent epilepsy due to deficiency in the PNPO gene].

Abstract:

TITLE:Epilepsia dependiente de piridoxina por deficiencia en el gen PNPO.

journal_name

Rev Neurol

journal_title

Revista de neurologia

authors

Garcia-Ezquiaga J,Carrasco-Marina ML,Gutierrez-Cruz N,Iglesias-Escalera G,Castro-Reguera M,Perez-Gonzalez B

doi

10.33588/rn.6907.2019084

subject

Has Abstract

pub_date

2019-10-01 00:00:00

pages

303-304

issue

7

eissn

0210-0010

issn

1576-6578

pii

rn2019084

journal_volume

69

pub_type

信件
  • [Inflammatory mechanisms, arteriosclerosis and ischemic stroke: clinical data and perspectives].

    abstract:OBJECTIVE:The atherosclerosis is the most common cause of death and disability in developed countries by causing ischemic cardiopathic and stroke. The ischemic atherotrombotic stroke is the most frequent form of the last one. In this sense we review herein the mechanisms underlying the artherosclerotic process. DEVELO...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Alvaro-González LC,Freijo-Guerrero MM,Sádaba-Garay F

    更新日期:2002-09-01 00:00:00

  • [Myasthenia gravis induced by inmuno checkpoints inhibitors: first case report secondary to avelumab therapy and review of published cases].

    abstract:INTRODUCTION:The inmuno checkpoints inhibitors are new revolutionary treatment for many neoplastic diseases in advanced stadium. There are described several types of neurological complications induced by nivolumab: polyneuropathy, seizures, radiculitis and myasthenia gravis disease. CASE REPORT:A 65 years old man with...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:10.33588/rn.6808.2018497

    authors: Reyes-Bueno JA,Rodriguez-Santos L,Serrano-Castro PJ

    更新日期:2019-04-16 00:00:00

  • [The amygdala and its relation to autism, behavioural disorders and other neurodevelopmental disorders].

    abstract::The amygdala is related with the recognition of the emotional meaning of stimuli, long-term memory, the orientation of social stimuli and the perception of gaze orientation. It plays a fundamental role in the recognition of faces, especially those expressing fear, and makes it possible to comprehend different emotiona...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Ruggieri VL

    更新日期:2014-02-24 00:00:00

  • Review of the novelties presented at the 27th Congress of the European Committee for Treatment and Research in Multiple Sclerosis (ECTRIMS) (II).

    abstract::The new insights presented at the 5th Joint Triennial Congress of the European and Americas Committees on Treatment and Research in Multiple Sclerosis (ECTRIMS and ACTRIMS) held in Amsterdam, the Netherlands, 19-22 October 2011, have been summarized at the fourth edition of Post-ECTRIMS meeting held in Madrid in Novem...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Fernandez O,Alvarez-Cermeno JC,Arroyo-Gonzalez R,Brieva L,Calles-Hernandez MC,Casanova-Estruch B,Comabella M,de las Heras V,Garcia-Merino JA,Hernandez-Perez MA,Izquierdo G,Meca-Lallana JE,Munoz-Garcia D,Olascoaga J,Oreja-Guev

    更新日期:2012-06-16 00:00:00

  • [Diagnostic value of the criteria of the International Headache Society in the differential diagnosis of primary headaches].

    abstract:INTRODUCTION:In this research we study primary headaches, which are currently considered to be a public health problem. We also examine the fact that an ever increasing number of people are affected and that in some cases such headaches can eventually be disabling because they bring about different degrees of functiona...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Colina-García RC,Carrasquero-Arias SL,International Headache Society.

    更新日期:2003-05-16 00:00:00

  • [The role of the neuropsychologist in neurology services: a descriptive study of the users of the specialised neurological assessment unit of the Hospital Complex of Navarra during its first year in service].

    abstract::INTRODUCTION. A large number of neurological diseases course with impairment of higher cognitive functions, their evaluation being important for diagnostic, prognostic and therapeutic purposes. The main purpose of neuropsychological assessment is to identify behavioral, emotional and cognitive consequences of brain dy...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Luna-Lario P,Seijas-Gómez R,Carnés-Vendrell A

    更新日期:2014-12-16 00:00:00

  • [Overestimation of the degree of stenosis in the intracranial internal carotid artery determined by magnetic resonance angiography compared to conventional arteriography].

    abstract:INTRODUCTION:In the evaluation of stenoses of the extracranial internal carotid artery (ICA), there are studies that suggest that magnetic resonance angiography (MRA) can be a substitute for conventional arteriography (CA), although it seems it has a tendency to overestimate the degree of stenosis. No similar compariso...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Durán-Ferreras E,Schoeck AP,Barest GD,Viereck JC,Babikian VL,Kase CS

    更新日期:2003-10-16 00:00:00

  • [Changes in verbal and nonverbal memory associated with bilateral hippocampal electrode implantation for epilepsy surgery].

    abstract:INTRODUCTION:An appropriate localization of ictal onset zone in refractory temporal lobe epilepsy favors an adequate outcome associated with surgical treatment. When video-electroencephalogram (video-EEG) and magnetic resonance imaging do not provide accurate data to locate ictal onset zone, the use of subdural or deep...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Carvajal-Castrillón J,Zapata J,Galeano-Toro LM,Bareño J,Jiménez M

    更新日期:2012-11-01 00:00:00

  • [Aspects concerning behavioural development and socialisation and how they are linked to attention deficit hyperactivity disorder].

    abstract:INTRODUCTION:Despite their importance, little attention has been given to the recognition of early markers of hyperactivity in the scientific literature and in everyday practice it can be difficult to separate some of the physiological behaviours displayed by older babies or preschool infants from pathological processe...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Eirís-Puñal J,Gómez-Lado M,Castro-Gago M

    更新日期:2006-02-13 00:00:00

  • [Familial intracranial aneurysms in Camagüey].

    abstract:INTRODUCTION:Genetic etiology in suggested in intracranial aneurysms. Such hypothesis is supported on familial aggregation, ocurrence in identical twins or associated to genetic diseases like adult polycystic renal disease. OBJECTIVE:To identify biological features in familial aneurysms different to sporadic ones. PA...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Vega-Basulto SD,Montejo-Montejo J,Silva-AdAn S,Mosqueda-Betancourt G

    更新日期:2003-02-01 00:00:00

  • [Extrarenal effects of furosemide on normal and ischemic cerebral tissue in the rat].

    abstract:INTRODUCTION:Recent studies suggest that furosemide (FUR), a chloride cotransporting antagonist, acts directly on neurons of central nervous system modifying the ionic flow. OBJECTIVE:The aim of the present study was to determine the extrarenal antiedema effect of FUR. MATERIAL AND METHODS:Male Sprague-Dawley rats we...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Oria De Suárez C,Eblen Zajjur A

    更新日期:2001-03-01 00:00:00

  • [Parkinson's disease in literature, cinema and television].

    abstract::INTRODUCTION. Since James Parkinson published what can be considered the first treaty on the disease that bears his name in 1817, the scientific literature on this pathology has not ceased to grow. But the illness has also been represented in literature, the cinema and on television, where the symptoms, treatment and ...

    journal_title:Revista de neurologia

    pub_type: 历史文章,杂志文章

    doi:

    authors: Collado-Vázquez S,Cano-de-la-Cuerda R,Carrillo JM

    更新日期:2014-02-01 00:00:00

  • Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients.

    abstract:INTRODUCTION:The determination of human leukocyte antigen (HLA) class II genotype is widely used to confirm the diagnosis of narcolepsy with or without cataplexy. The HLA genotyping is reliable, easy to perform and reassures the clinician. It is also less invasive than other methodologies and is in accordance with the ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Martins-da-Silva A,Lopes J,Ramalheira J,Carvalho C,Cunha D,Costa PP,Silva MB

    更新日期:2014-01-16 00:00:00

  • [The knowledge, clinical control and attitudes of Primary Care physicians when dealing with epileptic patients. Preliminary findings].

    abstract:INTRODUCTION:Epilepsy is a common disease with important social and economic repercussions. Patients with epilepsy have traditionally been discriminated by both the general population and physicians. A physician's lack of knowledge about epilepsy could be the cause of an incorrect clinical control (CC). AIMS:The purpo...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Pérez-Pérez J,Sosa AM,González-Casanova S

    更新日期:2005-04-01 00:00:00

  • [Instrumental gait analysis in stroke patients].

    abstract:INTRODUCTION:The motor control deficits after stroke affect the gait pattern. There is a significant variability between subjects. AIMS:To analyse, by using a capture motion system, the gait pattern in stroke patients with different levels of motor function, and to establish, despite the participants heterogeneity, wh...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Fernandez-Gonzalez P,Molina-Rueda F,Cuesta-Gomez A,Carratala-Tejada M,Miangolarra-Page JC

    更新日期:2016-11-16 00:00:00

  • [Head tremor].

    abstract:INTRODUCTION:Head tremor, either as an isolated symptom or as part of a symptomatic complex, occurs in patients with different neurological diseases. Little research has been carried out to analyse the clinical features of this neurological symptom. AIM:To review the symptomatology, aetiology and therapeutics of brain...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Gironell A,Vives B,Pagonabarraga J

    更新日期:2010-06-01 00:00:00

  • [White cerebellum sign (reversal sign)].

    abstract:TITLE:Signo del cerebelo blanco (reversal sign). : ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Castrillo-Sanz A,Mendoza-Rodríguez A

    更新日期:2014-01-01 00:00:00

  • [Neurological aspects described in The treasure of medicines for all illnesses by Gregorio López].

    abstract:INTRODUCTION:Latin American medicine in the 16th century produced the first collections of herbs with native plants from the New World. Treatises on popular therapies appeared, which included gallenic remedies as well as incorporating autochthonous plants. We review the main neurological diseases and their treatments d...

    journal_title:Revista de neurologia

    pub_type: 传,历史文章,杂志文章

    doi:

    authors: Carod-Artal FJ,Vázquez-Cabrera CB

    更新日期:2009-08-01 00:00:00

  • [«Man-in-the-barrel» syndrome: atypical manifestation of giant cell arteritis].

    abstract:INTRODUCTION:«Man-in-the-barrel» syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel» syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinica...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Calle-Lopez Y,Fernandez-Ramirez AF,Franco-Dager E,Gomez-Lopera JG,Vanegas-Garcia AL

    更新日期:2018-06-01 00:00:00

  • [Validation of the ice pack test in ophthalmoparesis due to myasthenia gravis].

    abstract:INTRODUCTION:Myasthenia gravis is an autoimmune disease of the neuromuscular junction that presents clinically as fluctuating weakness of skeletal muscles, as of the ocular region (myasthenia ocular). AIM:To demonstrate that the sensitivity and specificity of the ice pack test are high, in the differential diagnosis o...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Ramirez-Antunez ÁG,García-Ramos G,Estañol-Vidal B,Juárez-Flores A

    更新日期:2013-11-01 00:00:00

  • [Factors associated to the work situation of patients with multiple sclerosis].

    abstract:INTRODUCTION:Multiple sclerosis is a demyelinating neurological disease that usually gives rise to motor, perceptive, affective and cognitive disorders in patients. These symptoms can lead the person to lose his or her job and lower the quality of life of both patients and their relatives. AIM:To review the literature...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Cores EV,Vanotti S,Burin DI,Politis DG,Villa A

    更新日期:2014-02-16 00:00:00

  • [Neuropsychological aspects of obsessive compulsive disorder].

    abstract:INTRODUCTION AND OBJECTIVE:Neuropsychological performance in obsessive compulsive disorder (OCD) and its association with disfunctions in neuroanatomic structures and clinical symptoms of disorder has been reviewed. DEVELOPMENT:OCD symptoms and different aspects between children and adult psychopatology are presented....

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Andrés-Perpiñá S,Lázaro-García L,Canalda-Salhi G,Boget-Llucià T

    更新日期:2002-11-16 00:00:00

  • [The neurochemistry and neuropharmacology of frontotemporal dementia].

    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:

    authors: Alonso-Navarro H,Jabbour-Wadih T,Ayuso-Peralta L,Jiménez-Jiménez FJ

    更新日期:2006-05-01 00:00:00

  • [Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].

    abstract:INTRODUCTION:The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) wi...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Erdocia-Goni A,Alonso-Jimenez A,Ramon-Carbajo C,Garcia-Arumi E,Casquero P,Gallardo E,Diaz-Manera J

    更新日期:2018-04-16 00:00:00

  • [Cerebrovascular complications of Takayasu's disease].

    abstract::We report four young women with Takayasu's arteritis who developed an ischemic stroke. In three of these patients, this complication heralded the onset of the disease. Three patients also had seizures. In all cases, the diagnosis was suspected on the basis of an abnormal cardiovascular examination showing absent carot...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: del Brutto OH,Lara-Terán J,Sánchez J,Lara-Montiel J

    更新日期:1996-07-01 00:00:00

  • [Dementias: present situation and future perspectives (III). Neurological, therapeutic, psychosocial aspects and patient care].

    abstract::The lack of univocal diagnostic biological markers which are easily reproducible, highly specific and sensitive has propitiated the apparition of a conjunct of neuropsychological instruments for the detection and evaluation of dementias. The main markers are reviewed in this paper, the third of three papers dedicated ...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Espert R,Bertolín JM,Navarro JF,González A

    更新日期:1995-01-01 00:00:00

  • [Chlamydia pneumoniae and arteriosclerosis].

    abstract:INTRODUCTION:The relationship between Chlamydia pneumoniae and atherosclerosis has been assessed in several studies. Development and conclusions. Their results suggest a possible role of Chlamydia pneumoniae in the origin and development of the disease, while the actual link between them are still unknown. However, the...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Lapetra J,Santos JM,Gil-Peralta A,Mayoral E,González-Marcos JR

    更新日期:1999-02-01 00:00:00

  • [Do antioxidants in the diet affect the risk of developing Parkinson disease?].

    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:

    authors: Jiménez-Jiménez FJ,Ayuso-Peralta L,Molina JA,Cabrera-Valdivia F

    更新日期:1999-10-16 00:00:00

  • [Image analysis and processing. Fundaments and applications in neurology and neurosurgery].

    abstract::In recent years, image techniques have transformed the diagnosis in Medicine. Nevertheless, they are, by now, far from a widespread clinic and surgical use. Beyond the simple picture inspection, DICOM digital files can be explored by using image analysis/processing techniques in a better way. In practice, clinicians a...

    journal_title:Revista de neurologia

    pub_type: 杂志文章,评审

    doi:

    authors: Aso-Escario J,Martinez-Quiñones JV,Aso-Vizán J,Gil-Albero P,Arregui-Calvo R

    更新日期:2011-10-16 00:00:00

  • [The clinical and economic impact of generic drugs in the treatment of epilepsy].

    abstract:AIMS:The aim of this study was to determine whether the introduction of generic formulations of antiepileptic drugs (AED) would lead to an economic saving for the public health service. DEVELOPMENT:The narrow therapeutic index, low solubility and non-linear pharmacokinetics of some AED mean that the ranges of bioequiv...

    journal_title:Revista de neurologia

    pub_type: 杂志文章

    doi:

    authors: Argumosa A,Herranz JL

    更新日期:2005-07-01 00:00:00