Abstract:
PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the following criteria and underwent intensive examination between 2009 and 2012 in 14 collaborative centers: (1) younger than 6years old and (2) more than 10 seizures/month refractory to all available medical treatments including ACTH therapy, leading to significant psychosocial morbidity. METHODS:We analyzed epilepsy onset age, predominant seizure type, etiology, neuropsychological findings, and syndromic classification according to the pre-determined registration format. RESULTS:A total of 314 children were enrolled in this study. Epilepsy onset age in 239 cases (80%) was younger than 12months. The most frequent seizure type was epileptic spasms (ES), followed by generalized tonic seizures (GTS), which accounted for 42% and 20%, respectively. West syndrome (WS) was the most frequent epileptic syndrome and accounted for 37%, followed by unclassified epilepsy at 21%, neocortical epilepsy at 19%, Lennox-Gastaut syndrome at 12%, Dravet syndrome at 4%, Rasmussen syndrome at 2%, and others. The two most frequent causes of epilepsy were cortical dysplasia and chromosomal anomalies, as shown in 16% and 6%, respectively. However, the etiology of nearly one half of all patients remained unknown. Psychomotor development was already worse than a moderate degree in 62% of subjects at the first examination. CONCLUSION:The highest proportion of catastrophic epilepsy was WS and its related syndromes featuring ES and GTS, followed by neocortical epilepsy, whose psychomotor development was significantly retarded at examinations.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TTdoi
10.1016/j.braindev.2013.02.004subject
Has Abstractpub_date
2013-09-01 00:00:00pages
786-92issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(13)00103-4journal_volume
35pub_type
杂志文章abstract:BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.004
更新日期:2016-02-01 00:00:00
abstract::The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.11.002
更新日期:2004-09-01 00:00:00
abstract::Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00006-6
更新日期:1999-04-01 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::Midazolam is a relatively new anticonvulsive agent in the benzodiazepine group. It has a short onset of duration and is practical for use, providing several alternatives such as intravenous, intramuscular, and intranasal routes. The buccal route could be an alternative choice for seizure control in an emergency settin...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00230-9
更新日期:2003-06-01 00:00:00
abstract::The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80065-4
更新日期:1981-01-01 00:00:00
abstract::Zonisamide is widely used for intractable epilepsy and the effects of this drug on fetuses and neonates through the mother taking it for epilepsy need to be clarified. We measured the zonisamide concentration in plasma and breast milk using high-performance liquid chromatography to investigate the transfer of zonisami...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00407-7
更新日期:2002-03-01 00:00:00
abstract::Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.05.010
更新日期:2018-10-01 00:00:00
abstract::Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00129-7
更新日期:2000-08-01 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:OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.02.004
更新日期:2011-02-01 00:00:00
abstract::Fifty-one consecutive adult patients with epilepsy and early development destructive brain lesions were divided into three main groups according to the topographic distribution of the lesion on magnetic resonance imaging: hemispheric (H) (n=9); main arterial territory (AT) (n=25) and arterial borderzone (Bdz) (n=17). ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)00065-2
更新日期:2003-12-01 00:00:00
abstract::Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.11.004
更新日期:2012-09-01 00:00:00
abstract:OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.03.004
更新日期:2017-08-01 00:00:00
abstract::Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00101-8
更新日期:1996-01-01 00:00:00
abstract::Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.01.007
更新日期:2014-02-01 00:00:00
abstract::Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstration of the first defe...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2004.01.005
更新日期:2004-12-01 00:00:00
abstract::This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.005
更新日期:2012-06-01 00:00:00
abstract::Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6 months to 29 years 9 months) were evaluated for the ability of language. The presence of meaningful words, vocabularies, and ages at the start and disappearance of speech were assessed. Phenotype/genotype correlation was evaluated in 22...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00367-9
更新日期:2001-12-01 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::To determine the effect of flunarizine therapy on patients with alternating hemiplegia of childhood (AHC), we sent a questionnaire by mail to council members of the Japanese Society of Child Neurology. We collected 28 AHC patients, and studied their clinical courses and the effects of drug therapy. All of the patients...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00229-7
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.11.007
更新日期:2012-09-01 00:00:00
abstract::Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.003
更新日期:2016-08-01 00:00:00
abstract:BACKGROUND:Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal o...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.08.012
更新日期:2020-01-01 00:00:00
abstract::Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80079-5
更新日期:1983-01-01 00:00:00
abstract::Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.004
更新日期:2007-04-01 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: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:BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.07.008
更新日期:2021-01-01 00:00:00
abstract::We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.03.018
更新日期:2005-11-01 00:00:00