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 manifestations of a genetically determined predisposition. Some patients develop IgA deficiency during phenytoin treatment. This condition is reversible and IgA becomes normalized when phenytoin is withdrawn (drug-induced IgA deficiency). Some epileptic patients have a drug-independent IgA deficiency. Patients with drug-induced IgA deficiency are usually HLA-A2, while those with drug-independent IgA deficiency are HLA-A1,B8. The gene coding for IgA deficiency seems to be located in the HLA complex on chromosome 6. The gene locus for juvenile myoclonus epilepsy and related disorders is also on chromosome 6 and in close relation to the gene locus for the HLA system. Juvenile myoclonic epilepsy may be accompanied by drug-induced IgA deficiency, but there are also cases with other sometimes less-defined epilepsies, associated with this anomaly. It is possible that the relationship between epilepsy and immune disturbances is related to a common genetically determined susceptibility.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Aarli JAdoi
10.1016/0387-7604(93)90005-ssubject
Has Abstractpub_date
1993-01-01 00:00:00pages
41-9issue
1eissn
0387-7604issn
1872-7131pii
0387-7604(93)90005-Sjournal_volume
15pub_type
杂志文章,评审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:PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.08.007
更新日期:2012-05-01 00:00:00
abstract::The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(96)00051-4
更新日期:1996-09-01 00:00:00
abstract::We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.013
更新日期:2018-05-01 00:00:00
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...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.02.004
更新日期:2013-09-01 00:00:00
abstract::Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.10.005
更新日期:2019-03-01 00:00:00
abstract::We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.06.009
更新日期:2013-05-01 00:00:00
abstract::A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.05.002
更新日期:2013-03-01 00:00:00
abstract::The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(96)00557-8
更新日期:1997-04-01 00:00:00
abstract::The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80017-0
更新日期:1979-01-01 00:00:00
abstract::Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.09.003
更新日期:2006-05-01 00:00:00
abstract::Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2013.05.011
更新日期:2014-04-01 00:00:00
abstract::Infantile myositis, observed in the neonatal period, is rare and may be confused with congenital muscular dystrophy. The patient presented here showed evidence of a myopathy with in utero onset with intrauterine growth retardation and decreased fetal movements. A muscle biopsy demonstrated characteristic perifascicula...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(96)00049-6
更新日期:1996-09-01 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::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::A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80133-1
更新日期:1991-09-01 00:00:00
abstract::Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.12.007
更新日期:2017-05-01 00:00:00
abstract::Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.04.004
更新日期:2015-11-01 00:00:00
abstract::The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(02)00121-3
更新日期:2003-01-01 00:00:00
abstract:OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.09.005
更新日期:2019-02-01 00:00:00
abstract::Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80180-x
更新日期:1990-01-01 00:00:00
abstract::The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It ha...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.07.003
更新日期:2018-01-01 00:00:00
abstract::MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.012
更新日期:2007-06-01 00:00:00
abstract::In order to study the validity of disintegrative psychosis (DP) as defined in ICD-9, we compared the natural history of somatic morbidity of 13 patients given this diagnosis in childhood with a control group of 39 patients with infantile autism (IA) matched for gender, age, IQ and social class. Average follow-up time ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00045-5
更新日期:1999-10-01 00:00:00
abstract::A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(99)00085-6
更新日期:2000-01-01 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:BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.08.003
更新日期:2019-02-01 00:00:00
abstract::We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(89)80063-4
更新日期:1989-01-01 00:00:00
abstract::Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.08.002
更新日期:2014-08-01 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