Abstract：
:To analyze the clinical characteristics and PRRT2 gene mutation of self-limited familial infantile epilepsy and evaluate the treatment responses of different antiepileptic drugs in self-limited familial infantile epilepsy. We reviewed the clinical feature and genetic mutation results and treatment responses of two sibling sisters. They were detected with the PRRT2 gene mutation through Sanger sequencing. Elder sister was treated with oxcarbazepine oral suspension, while younger sister was treated with levetiracetam oral solution. The two sibling sisters exhibited PRRT2 heterozygous mutation inherited from their mother in c.649dupC p.(Arg217fs). Oxcarbazepine oral suspension had an immediate effect on the elder sister who was treated with it. However, levetiracetam oral solution had no effect on younger sister even though the dose was increased, but she got seizure-free after turning to oxcarbazepine oral suspension. Oxcarbazepine, which plays the mechanism of the sodium channel blockers, has a more significant effect than levetiracetam, which has no mechanism of the sodium channel blockers in self-limited familial infantile epilepsy. The PRRT2 gene of infantile epileptic patients with a family history of infantile convulsions or paroxysmal kinesigenic dyskinesia(PKD) could be detected by sanger sequencing and a biomarker to select antiepileptic drugs which play the mechanism of the sodium channel blockers could be utilized.
journal_name
Acta Neurol Belgjournal_title
Acta neurologica Belgicaauthors
Zhao Q,Liu Z,Hu Y,Fang S,Zheng F,Li X,Li F,Lin Zdoi
10.1007/s13760-020-01348-9subject
Has Abstractpub_date
2020-08-01 00:00:00pages
1025-1028issue
4eissn
0300-9009issn
2240-2993pii
10.1007/s13760-020-01348-9journal_volume
120pub_type
杂志文章abstract：:Friedreich's ataxia (FRDA), an autosomal recessive disorder, is characterized by spinocerebellar degeneration and cardiomyopathy. Here we explore some of the putative mechanisms underlying the cardiomyopathy in FRDA that have been elucidated using different experimental models. FRDA is characterized by a deficiency in...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：2011-09-01 00:00:00
abstract：:Public awareness is essential for the early diagnosis, treatment, and prevention of stroke. In particular, young adults represent an important avenue for increasing awareness and precluding the adoption of unhealthy, risk-increasing behaviors. This study was the first to investigate the basic knowledge of Korean adole...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0754-2
更新日期：2017-06-01 00:00:00
abstract：:Migraine headaches are common in children. Early diagnosis and appropriate interventions are mandatory to prevent decades of suffering and diminished quality of life. There is need for data regarding the efficacy and safety of prophylactic agents in children with migraine; therefore, we designed a randomized clinical ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,随机对照试验
doi：10.1007/s13760-012-0011-7
更新日期：2012-03-01 00:00:00
abstract：:The first applications of positron emission tomography (PET) for the study of brain tumours appeared early in the development of this technology. New trends in these particular PET applications tend to take into account the histological heterogeneity of these tumours and the necessity to integrate PET data in their su...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1997-09-01 00:00:00
abstract：:Multiple sclerosis (MS) can cause alterations in autonomic cardiovascular functions. We aimed to investigate the correlation of disease activity and disability with heart rate variability (HRV) of cardiovascular autonomic dysfunction (CAD) demonstrated by 24-h Holter monitorization. Thirty-four patients with clinicall...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2011-06-01 00:00:00
abstract：:BRAT1-related neurodevelopmental disorders are characterized by heterogeneous phenotypes with varying levels of clinical severity. Since the discovery of BRAT1 variants as the molecular etiology of lethal neonatal rigidity and multifocal seizure syndrome (RMFSL, OMIM 614498), these variants have also been identified i...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01513-0
更新日期：2020-12-01 00:00:00
abstract：:Evaluation of the analgesic effect after a single application of the capsaicin 8 % cutaneous patch (Qutenza™) in 37 patients suffering from painful, distal symmetric polyneuropathy (PNP) for an average of 5 years. Patients ranged from 40 to 78 years of age and 22 subjects were HIV-positive. Patients were observed 4 we...
journal_title：Acta neurologica Belgica
pub_type： 临床试验,杂志文章
doi：10.1007/s13760-014-0395-7
更新日期：2015-09-01 00:00:00
abstract：:Tumors in primary sensory area are challenging to remove without causing a neurological deficit, especially in musicians who present complex neuronal networks. Indeed, in this kind of patients, somatosensory evoked potentials (SSEPs) are not plenty. We describe our experience for sensory and proprioception preservatio...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01368-5
更新日期：2020-05-05 00:00:00
abstract：:Febrile seizures (FS) are recognized as an antecedent to the development of temporal lobe epilepsy with hippocampal sclerosis (TLE-HS), but it is unclear whether prolonged FS are a direct cause of TLE-HS. Here, we used a rat model of infantile FS to study the effects of inflammatory cytokines on seizure susceptibility...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0246-y
更新日期：2014-09-01 00:00:00
abstract：:The authors present a method using cerebral tomodensitometry to establish anatomo-clinical correlations in aphasia. They confirm, in their broad lines, the results of previous studies. They stress the importance of the material that could be studied by this method and define the ideal conditions in which future work s...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：:Serum and cerebrospinal fluid (CSF) of 13 patients have been examined to confirm and precise the diagnosis of herpes simplex virus encephalitis (HSVE). By amplifying the DNA with a nested polymerase chain reaction (PCR), we could demonstrate the herpetic origin of these cases of encephalitis. DNA of HSV type 1 or type...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1997-12-01 00:00:00
abstract：OBJECTIVE:To study the impact of cognitive impairment and severity of dementia on the quality of life (QoL) of patients and their caregivers. DESIGN:Descriptive cross-sectional study within the NAtional Dementia Economic Study. SETTING:231 general practices and 15 specialist clinics in Belgium. SUBJECTS:605 patients...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2003-03-01 00:00:00
abstract：PURPOSE:total removal of spinal hemangioblastomas with satisfactory clinical outcomes remains a challenge. We aimed to evaluate the surgical outcomes of our spinal hemangioblastomas patients, summarize our experiences with this condition and review-related literature. METHODS:records of 18 spinal hemangioblastoma pati...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-020-01420-4
更新日期：2020-07-07 00:00:00
abstract：:Disorganized sleep patterns, can be found both during normal development and in pathological conditions. Aging could also be accompanied by a disorganization of the night sleep episode; sleep could be interrupted by spontaneous awakening, sleep cycle could be shortened or incomplete, sleep states modified. These patte...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：
更新日期：1997-06-01 00:00:00
abstract：UNLABELLED:Although there only have been a limited number of double-blind, placebo controlled trials, antipsychotics are considered to be effective drugs for the treatment of tics in Gilles de la Tourette syndrome (GTS). Evidence concerning the efficacy of olanzapine and other atypical antipsychotics in the treatment o...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2005-12-01 00:00:00
abstract：:During a course of therapy by anticoagulants, 16 intracranial haemorrhages and 10 cerebral infarctions, were observed over a period of seven years. The intracranial haemorrhages include 11 subdural haematomas (four acute, seven chronic) and ive intracerebral haemorrhages, one of which resulted from the rupture of an a...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1975-09-01 00:00:00
abstract：:On the basis of 90 cerebral AVMs, the authors study clinical signs which show the AVM, before a dramatic bleeding. Such clinical signs are: benign subarachnoid hemorrhage or intracranial hypertension and, only for lobar AVMs, migraine, epileptic seizures, progressive neurological deficit. In such cases a misdiagnosis ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：:To evaluate the relationship between disease duration, disability, disease pattern, age and sex with fatigue in MS patients. One hundred and seventy-three clinically definite MS patients and 87 age-matched healthy controls enrolled in this cross sectional study. Demographic data (sex, age), duration of the disease and...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0198-2
更新日期：2013-12-01 00:00:00
abstract：:Atomoxetine, a selective noradrenaline reuptake inhibitor, has been reported to enhance brain plasticity, but has not yet been used in stroke patients. We reported the feasibility and clinical benefits on motor functional recovery of the combination of repetitive transcranial magnetic stimulation (rTMS) and intensive ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-015-0503-3
更新日期：2016-03-01 00:00:00
abstract：:Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal lobar degeneration (FTLD) in 15% of the cases. A neuropathological continuity between ALS and FTLD-TDP is suspected. The present post-mortem 7.0-tesla magnetic resonance imaging (MRI) study compares the topographic distribution of iron (Fe) depositi...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0832-5
更新日期：2017-12-01 00:00:00
abstract：:It has been shown that low-frequency stimulation (LFS) can induce anticonvulsant effects. In this study, the effect of different LFS frequencies on kindling induced behavioral and ultrastructural changes was investigated. For induction of kindled seizures in rats, stimulating and recording electrodes were implanted in...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-013-0243-1
更新日期：2014-03-01 00:00:00
abstract：:Neurosarcoidosis is a diagnostic challenge, especially in the absence of systemic involvement, even when cerebral biopsies show noncaseating granulomas. We report a patient with a pineal germinoma associated with a extensive peri- and intra- tumoural granulomatous reaction, who was first diagnosed as possible neurosar...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：2009-06-01 00:00:00
abstract：:The various neurological manifestations encountered in 40 zairians out of a total of 500 with homozygous (SS) Sickle cell disease were described. These included convulsions, vascular accidents, mental changes, increased intracranial pressure and meningism. The literature on the involvement of the nervous system in Sic...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1977-03-01 00:00:00
abstract：:A correlation is made between the index of circulatory resistance given by ultrasonic flow-measurement and rheography. Patients with normal and increased blood pressure were studied. The characteristics of the transient and of the permanent ischaemic attacks are defined. ...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1976-01-01 00:00:00
abstract：:The authors report ten cases of progressive dementia. Nine are associated with gait disturbances and seven with urinary incontinence. Despite the severity of dementia and Ct Scan signs of cortical atrophy, magnitude of neuroradiological ventricular dilatation and ventricular reflux at isotopic cisternography lead to s...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1989-05-01 00:00:00
abstract：:Visual disorder is one of the non-motor symptoms found in Parkinson's disease (PD). It can be easily identified in the early stages even before the spread of pathological conditions to the brain parts. Studies have revealed that loss of dopamine (DA) cells in retinal layers is a prime cause for both retinal disturbanc...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章,评审
doi：10.1007/s13760-020-01274-w
更新日期：2020-04-01 00:00:00
abstract：:Sleep disorders are very common in Parkinson's disease (PD), being associated with several other conditions, mainly psychiatric disorders. The present study was designed to assess sleep quality in Brazilian patients with PD and to evaluate whether sleep changes are associated with clinical variables, especially neurop...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：10.1007/s13760-017-0868-6
更新日期：2018-03-01 00:00:00
abstract：:Clinical records and EEGs of 114 consecutive patients with clinical diagnosis of Alzheimer's disease have been reviewed. The EEGs of 15 patients (13%) contained triphasic waves. Triphasic waves were always atypical as they occurred singularly or in short bursts, and/or they had occipital predominance, and/or they were...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:A language test protocol for aphasia in French-speaking patients was drawn up recently by workers in Toulouse and Montreal. The protocol has been applied to sixty hospitalized sciatica patients of the same age range and socio-cultural level as the average population of aphasics in our department. Only one of the norma...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:Five to 10 mul of 196 cerebrospinal fluid samples were subjected to agar gel electrophoresis without previous concentration. No "degenerative" pattern was found to be correlated with any clinical diagnosis or group of diagnoses, Repeated freezing and thawing appears to have different effects on the different fractions...
journal_title：Acta neurologica Belgica
pub_type： 杂志文章
doi：
更新日期：1974-11-01 00:00:00
