Abstract:
:The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic cases of EIEE would be due to such disorders.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Bermejo AM,Martin VL,Arcas J,Perez-Higueras A,Morales C,Pascual-Castroviejo Idoi
10.1016/s0387-7604(12)80356-1keywords:
subject
Has Abstractpub_date
1992-11-01 00:00:00pages
425-8issue
6eissn
0387-7604issn
1872-7131pii
S0387-7604(12)80356-1journal_volume
14pub_type
杂志文章,评审abstract::In 48 families in which tuberous sclerosis occurred, extensive examination presented almost the same incidence of sporadic cases as reported in previous studies. Although inspection of the skin and cranial computed tomography seem to be the most sensitive diagnostic tests available, negative results with these methods...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80031-3
更新日期:1980-01-01 00:00:00
abstract::Thirteen to 43% of patients with infantile spasms (IS) have other types of seizures, which are considered a feature of an unfavourable prognosis and, to some extent, as a contra-indication for steroid treatment. The present series comprised 43 patients treated with steroids, who suffered from other types of seizures p...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80311-1
更新日期:1990-01-01 00:00:00
abstract::154 patients with a mean age of 6 years 1 month were followed on valproate monotherapy for a period ranging from 5 to 27 months (mean 22 months). Absence epilepsies, benign myoclonic epilepsies and epilepsies with tonic-clonic seizures on awakening were the best controlled, followed by benign partial epilepsies and in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80119-x
更新日期:1986-01-01 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::The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00496-2
更新日期:1997-03-01 00:00:00
abstract::To elucidate the nature of an overabundance of collagen seen on microscopic examination in tuberous sclerous (TS), the hydroxyproline content in tissues and urine was determined. TS tissues of 5 patients were obtained on necropsy or plastic surgery. Urine was collected from 10 patients with TS and 19 controls. Tumors ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80009-5
更新日期:1981-01-01 00:00:00
abstract::The purpose of this study was to evaluate the ability of the test of variables of attention (TOVA) to distinguish between 6- to 12-year-old Japanese male children with attention deficit hyperactivity disorder (ADHD group; n=17) meeting DSM-IV and ICD-10 criteria, and age-matched, normal Japanese male controls (control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00168-6
更新日期:2000-09-01 00:00:00
abstract:PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.07.006
更新日期:2021-01-01 00:00:00
abstract::As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80070-3
更新日期:1982-01-01 00:00:00
abstract::Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80060-7
更新日期:1985-01-01 00:00:00
abstract::Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(98)00002-3
更新日期:1998-04-01 00:00:00
abstract::Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.09.002
更新日期:2017-02-01 00:00:00
abstract:BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.015
更新日期:2018-02-01 00:00:00
abstract::The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus co...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00215-7
更新日期:2001-07-01 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::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::Neural stem cells (NSCs)of the central nervous system (CNS) have recently received a great deal of attention and interest for their therapeutic potential for neurological disorders. NSCs are defined as CNS progenitor cells that have the capacity for self-renewal and multipotent potential to become neurons or glial cel...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2006.07.012
更新日期:2007-05-01 00:00:00
abstract::Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.02.013
更新日期:2016-09-01 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::In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(00)00144-3
更新日期:2000-09-01 00:00:00
abstract::Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00093-1
更新日期:2002-10-01 00:00:00
abstract:AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.10.002
更新日期:2016-04-01 00:00:00
abstract::We report an 11-yr-old girl who visited the outpatient department of Islamabad Children's Hospital with uncontrolled seizures, psychomotor retardation and hand washing movements since early childhood. She had an uneventful peri- and neonatal history with a normal head size at birth and fulfilled the criteria of classi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80045-3
更新日期:1991-11-01 00:00:00
abstract:OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.04.014
更新日期:2017-10-01 00:00:00
abstract::A boy with chronic relapsing dysimmune polyneuropathy was treated with intravenous gammaglobulin injections for the fourth and fifth episodes, and showed rapid clinical improvement compared with in the three previous episodes, when he was treated by high dose steroid administration. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80332-9
更新日期:1990-01-01 00:00:00
abstract::Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.01.001
更新日期:2020-04-01 00:00:00
abstract::MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.06.013
更新日期:2018-11-01 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::Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...
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
abstract::West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00312-6
更新日期:2001-11-01 00:00:00