Abstract:
:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention to the symptoms of onset. All the patients received at least one formal cognitive and behavior evaluation. Epilepsy started at a mean age of 5.7 months; the onset was marked by isolated seizure in 25 infants, and by status epilepticus in 12; the first seizure had been triggered by fever, mostly of low degree in 22 infants; the first EEG was normal in all cases. During the second year of life difficult-to-treat seizures recurred, mostly triggered by fever, hot bath, and intermittent lights and delay in psychomotor development became evident. At the last evaluation, performed at a mean age of 16+/-6.9 years, mental retardation was present in 33 patients, associated with behavior disorders in 21. Our data indicate that the most striking features of SMEI are: the early onset of seizures in a previously healthy child, the long duration of the first seizure, the presence of focal ictal symptoms, and sensitivity to low-grade fever. Diagnosis of SMEI may be proposed by the end of the first year of life, and a definite diagnosis can be established during the second year based on the peculiar seizure-favoring factors, EEG photosensitivity and psychomotor slowing. The temporal correlation between high seizure frequency and cognitive impairment support the role of epilepsy in the clinical outcome, even if a role of channelopathy cannot be ruled out.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Ragona F,Brazzo D,De Giorgi I,Morbi M,Freri E,Teutonico F,Gennaro E,Zara F,Binelli S,Veggiotti P,Granata Tdoi
10.1016/j.braindev.2009.09.014subject
Has Abstractpub_date
2010-01-01 00:00:00pages
71-7issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(09)00257-5journal_volume
32pub_type
杂志文章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::Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for D...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80054-4
更新日期:1991-07-01 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::Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2004.05.003
更新日期:2005-04-01 00:00:00
abstract:AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.03.004
更新日期:2020-06-01 00:00:00
abstract:AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.08.004
更新日期:2010-08-01 00:00:00
abstract:OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...
journal_title:Brain & development
pub_type:
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更新日期:2020-09-01 00:00:00
abstract::Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.06.008
更新日期:2006-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,多中心研究
doi:10.1016/j.braindev.2007.12.016
更新日期:2008-09-01 00:00:00
abstract::Both xeroderma pigmentosum group A (XPA) and Cockayne syndrome (CS) are rare autosomal disorders, have a genetic defect in the step of nucleotide repair, and involve various neurological abnormalities caused by progressive neurodegeneration. We performed comprehensive neuropathological analysis of five cases of XPA an...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
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更新日期:1999-07-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.06.016
更新日期:2011-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80059-0
更新日期:1985-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(96)00059-9
更新日期:1996-11-01 00:00:00
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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 sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80026-x
更新日期:1980-01-01 00:00:00
abstract::We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00064-8
更新日期:1997-11-01 00:00:00
abstract::A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80119-4
更新日期:1985-01-01 00:00:00
abstract::We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.12.008
更新日期:2004-10-01 00:00:00
abstract::Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.11.007
更新日期:2009-11-01 00:00:00
abstract::A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00308-4
更新日期:2001-11-01 00:00:00
abstract::Muscle ultrasound scanning is a non-invasive and painless technique for evaluating muscle disorders in childhood. We have performed ultrasound scans of the quadriceps muscle in 26 children with various forms of congenital muscular dystrophies. There were 8 patients clearly showing selective involvement within the comp...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80091-x
更新日期:1992-03-01 00:00:00
abstract::In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission. I...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(97)00022-3
更新日期:1997-06-01 00:00:00
abstract::We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and mark...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.01.007
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.10.006
更新日期:2015-08-01 00:00:00
abstract::A 10-year-old boy with psychomotor developmental delay and cerebellar vermis atrophy developed right hemiplegia with vomiting, unconsciousness, convulsions, and late-onset fever. Slow delta activity was noted over the left hemisphere on electroencephalography, and neuroimaging revealed swelling of the left temporo-occ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.11.002
更新日期:2012-09-01 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:PURPOSE:Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. SUBJECTS AND METHODS:We id...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.011
更新日期:2014-10-01 00:00:00
abstract::A 10-year-old girl with a mass lesion in the left deep frontal lobe was reported. Clinically, seizures occurred at 3 years and 8 months and became intractable around the age of 5.5 years. EEG initially showed focal spikes on the left fronto-central area and later developed into diffuse slow spike and wave complexes (D...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80116-9
更新日期:1985-01-01 00:00:00
abstract:INTRODUCTION:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.12.010
更新日期:2014-11-01 00:00:00
abstract::Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.07.008
更新日期:2009-06-01 00:00:00