Abstract:
:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in about one-third of cases. Brain imagings reveal structural abnormalities including malformations, notably asymmetric lesions in most cases.S-B pattern is persistently observed regardless of circadian cycle. Bursts of 1-3s duration alternate with nearly flat suppression phase of 2-5s at an approximately regular rate; 5-10s of burst-burst interval. Some asymmetry in S-B is noted in about two-thirds of cases. Ictal EEG of tonic spasms shows principally desynchronization with or without initial rapid activity. Tonic spasms appear concomitant with bursts. Characteristic age-dependent evolution from OS to West syndrome (WS) in many cases, and further from WS to Lennox-Gastaut syndrome (LGS) in some, proceed concomitantly with EEG transition from S-B to hypsarrhythmia at around age 3-6 months, and further from hypsarrhythmia to diffuse slow spike-waves at around age 1. Under the inclusive concept of the age-dependent epileptic encephalopathy, OS, WS, and LGS have common characteristics such as age preference, frequent minor generalized seizures, and continuous massive epileptic EEG abnormality. Mutual transition suggests the same pathophysiology among three syndromes and the age factor should be considered as the common denominator responsible for the manifestation of each of their own specific clinico-electrical features. Namely, these syndromes may be the age-specific epileptic reaction to various non-specific exogenous brain insults, acting at the specific developmental stages.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yamatogi Y,Ohtahara Sdoi
10.1016/s0387-7604(01)00392-8keywords:
subject
Has Abstractpub_date
2002-01-01 00:00:00pages
13-23issue
1eissn
0387-7604issn
1872-7131pii
S0387760401003928journal_volume
24pub_type
杂志文章,评审abstract::Three cases of Lesch-Nyhan syndrome (LNS) were examined by polysomnography to assess the brainstem function, and to determine the causes of the neurological manifestations and sudden death in this syndrome. In the two older cases, the amount of slow wave and rapid eye movement (REM) sleep, the REM density and the freq...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(98)00052-7
更新日期:1998-12-01 00:00:00
abstract::Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(93)90005-s
更新日期:1993-01-01 00:00:00
abstract::The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(89)80017-8
更新日期:1989-01-01 00:00:00
abstract::Hereditary progressive dystonia (HPD) with marked diurnal fluctuation is caused by mutant guanosine triphosphate (GTP) cyclohydrolase I (GCH). The clinical presentation of dominant HPD varies considerably. We proposed the hypothesis that a relative increase of mutant GCH capable of inhibiting normal GCH is responsible...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00135-2
更新日期:2000-09-01 00:00:00
abstract::Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.02.013
更新日期:2019-06-01 00:00:00
abstract:OBJECTIVE:Spontaneous movements at 2 months of corrected age in preterm infants with intellectual disability (ID) were investigated by assessing individual motor elements separated from movements involving the entire body. METHODS:Video recordings of 20 preterm infants with ID (16 males, 4 females; median gestational ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.08.003
更新日期:2014-08-01 00:00:00
abstract:PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.001
更新日期:2017-11-01 00:00:00
abstract::The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00003-7
更新日期:2002-04-01 00:00:00
abstract::Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:
更新日期:1992-05-01 00:00:00
abstract::A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00155-9
更新日期:2003-03-01 00:00:00
abstract::We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.03.009
更新日期:2013-02-01 00:00:00
abstract::Two children treated for status epilepticus had low plasma phenytoin levels during enteral feeding, despite adequate oral dosage. The target range (10-20 mg/l) was achieved when feeds were stopped, or when intravenous phenytoin was used. Enteral feeding may interfere with the absorption of oral phenytoin thereby compr...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90058-2
更新日期:1994-03-01 00:00:00
abstract::Various abnormalities of sleep have been reported in extrapyramidal diseases in adults. We have investigated the disturbances of REM sleep (SREM) in severe athetoid cerebral palsy (ACP) originating perinatally. Ten ACP patients, 5 males and 5 females ranging from 15 to 30 years old, were studied by means of all-night ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80214-2
更新日期:1990-01-01 00:00:00
abstract:BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.003
更新日期:2019-11-01 00:00:00
abstract::A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80029-1
更新日期:1983-01-01 00:00:00
abstract::Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.11.005
更新日期:2005-09-01 00:00:00
abstract::Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.08.009
更新日期:2009-11-01 00:00:00
abstract::We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.006
更新日期:2009-01-01 00:00:00
abstract::The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80067-2
更新日期:1990-01-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.04.010
更新日期:2012-03-01 00:00:00
abstract::From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80054-x
更新日期:1981-01-01 00:00:00
abstract::Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00316-3
更新日期:2001-12-01 00:00:00
abstract:PURPOSE:Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, f...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.03.007
更新日期:2018-09-01 00:00:00
abstract:INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.07.007
更新日期:2016-02-01 00:00:00
abstract::We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.10.013
更新日期:2015-08-01 00:00:00
abstract::This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...
journal_title:Brain & development
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(87)80076-1
更新日期:1987-01-01 00:00:00
abstract:BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.07.003
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.01.006
更新日期:2020-04-01 00:00:00
abstract::Abnormalities of the cerebral arteries and the aorta are more common in young patients with tuberous sclerosis than in the rest of the population. Strokes have been reported but there is no confirmation that embolization of cerebral arteries by fragments of cardiac rhabdomyoma plays a role in the higher incidence of s...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(89)80003-8
更新日期:1989-01-01 00:00:00