Abstract：
:We report on the case of a 6-year-old boy with epilepsy involving febrile seizures and unprovoked generalized tonic clonic seizures. Genetic testing revealed a novel de novo mutation in the SCN1A gene (C>T 4786, R1596C). The epilepsy phenotype is within the spectrum of generalized epilepsy with febrile seizures plus. However, de novo mutations are more commonly reported in cases of severe myoclonic epilepsy of infancy, and are less often reported in generalized epilepsy with febrile seizures plus. The clinical utility of specific genetic testing in this case is discussed, as are criteria for determining the pathologic significance of novel DNA variants. In this case, the wild type of residue (R1596) is well-conserved across evolution from bacteria to humans, providing support for the hypothesis that this mutation causes epilepsy.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Dlugos DJ,Ferraro TN,Buono RJdoi
10.1016/j.pediatrneurol.2007.06.008subject
Has Abstractpub_date
2007-10-01 00:00:00pages
303-5issue
4eissn
0887-8994issn
1873-5150pii
S0887-8994(07)00305-0journal_volume
37pub_type
杂志文章abstract：BACKGROUND:Autosomal recessive or X-linked inborn errors of intracellular cobalamin metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both increased cerebrospinal fluid glycine and cerebrospinal fluid/plasma glycine ratio are biochemical features of nonketotic hyperglycinemia. METHODS:We d...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.12.003
更新日期：2017-06-01 00:00:00
abstract：:G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heteroz...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.12.004
更新日期：2008-04-01 00:00:00
abstract：BACKGROUND:The mechanistic target of rapamycin inhibitors everolimus and sirolimus have activity against multiple manifestations of tuberous sclerosis complex and are approved to treat astrocytomas, angiomyolipomas, lymphangioleiomyomatosis, and epilepsy. Cannabidiol is a novel antiepileptic medication. There is lack o...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.11.017
更新日期：2020-04-01 00:00:00
abstract：:Four patients who manifested symptoms of the antiepileptic drug (AED) hypersensitivity syndrome during therapy with carbamazepine are reported. In 3 patients, the syndrome was exacerbated after conversion of therapy to another antiepileptic drug with an aromatic ring chemical structure. In vitro lymphocyte transformat...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90054-x
更新日期：1994-03-01 00:00:00
abstract：:The complications of 50 Chinese children with neurofibromatosis-1 were found to be different from other ethnic groups. There was a predominance of scoliosis, speech problems, and blood malignancies, but brain tumors were rare. The majority had good prognosis. Clinical manifestations depend on the age of ascertainment ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90006-x
更新日期：1994-11-01 00:00:00
abstract：:The details of 328 patients with bacterial meningitis, admitted from 1984 through 1993, were obtained from 46 departments of pediatrics of large hospitals through questionnaires. The incidence rate per 100,000 child-years was 2.32, being higher in children aged 0-4 years (rate, 7.22) than 5-15 years (rate, 0.49). The ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(96)00024-0
更新日期：1996-04-01 00:00:00
abstract：:Risk factors for mortality of young children with cerebral palsy were studied using a sample of 12,709 children aged 0.5-3.5 years with cerebral palsy who had received services from the State of California between 1980 and 1995. The most powerful prognostic factors for survival were simple functional items: mobility a...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00172-0
更新日期：1998-02-01 00:00:00
abstract：:The temporal latency between an encephalopathic event and the onset of infantile spasms cannot be determined in the majority of symptomatic cases (e.g. genetic conditions, cerebral malformations). However, we can measure this interval when a previously normal infant sustains brain injury followed by infantile spasms. ...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2007.08.005
更新日期：2008-01-01 00:00:00
abstract：:In children, multiple sclerosis is rare and has some clinical and paraclinical differences compared with adults. The assessment of corticospinal motor tracts is expected to be relevant because of their frequent early involvement in this disease. Reported are the results of transcranial magnetic stimulation in two chil...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(99)00111-3
更新日期：2000-02-01 00:00:00
abstract：:Central neurogenic hyperventilation refers to progressive tachypnea leading to hypocarbia and respiratory alkalosis caused by cortical disorders, initially reported in comatose patients with mainly pontine infarction. Central neurogenic hyperventilation in conscious patients is even rarer, numbering around 30 reported...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2003.10.003
更新日期：2004-04-01 00:00:00
abstract：:This report describes a case of West Nile virus meningoencephalitis in a previously healthy adolescent. Clinical features included fever, altered mental status, and speech difficulty, with subsequent hyperesthesia, ataxia, and motor weakness, all of which eventually resolved completely. Magnetic resonance imaging was ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.03.007
更新日期：2005-09-01 00:00:00
abstract：:Syncope is a common problem in children and adolescents. It is typically caused by benign neurally mediated hypotension, but other, more concerning, etiologies of syncope must be considered. In most instances, the underlying cause of syncope in the pediatric patient can be determined by obtaining a thorough history an...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2015.10.018
更新日期：2016-02-01 00:00:00
abstract：:This study reports on the seizure and psychosocial outcome of 29 patients with electroclinically well-defined childhood-onset symptomatogenic or cryptogenic partial epilepsy with complex partial seizures who were followed prospectively over 14 years. Many were refractory at the time of enrollment. At 14-year follow-up...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00246-6
更新日期：2001-04-01 00:00:00
abstract：:The effects of vagal nerve stimulation on sleep-related breathing have not been well-described in children. Vagal nerve stimulation was reported to cause decreases in airflow during sleep, although most studies reported this condition to be clinically insignificant. We present a retrospective case series of nine child...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2007.09.014
更新日期：2008-02-01 00:00:00
abstract：:Recirculation after transient intrauterine ischemia has previously been found to be accompanied by secondary mitochondrial dysfunction in the immature rat brain. This study was performed to assess the efficacy of combined treatment with ascorbic acid and alpha-tocopherol in improving secondary brain damage. On the 17t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00383-1
更新日期：2002-07-01 00:00:00
abstract：:We describe eight cases of pediatric patients whose neuroimages performed after seizures revealed abnormalities that were compatible with edema surrounding calcified lesions and which disappeared in subsequent examinations. ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00324-1
更新日期：2001-10-01 00:00:00
abstract：BACKGROUND:Acute flaccid myelitis (AFM) is a rare disease of young children. The typical presentation involves acute-onset flaccid paralysis in one or more extremities with a nonspecific viral prodrome. Long-term outcomes demonstrate that functional recovery plateaus around six to nine months. The purpose of this study...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.06.016
更新日期：2020-10-01 00:00:00
abstract：:This article describes an 8-month-old boy with the full clinical spectrum anti-N-methyl-d-aspartate receptor encephalitis. He was admitted to the hospital with involuntary orofacial head movements, behavioral changes, and fluctuation in consciousness. His examination showed tongue thrusting, decreased responsiveness, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.12.032
更新日期：2013-05-01 00:00:00
abstract：:According to increasing evidence, hypothermia can significantly improve outcomes in term neonates manifesting asphyxic insult and hypoxic-ischemic encephalopathy. Oxidative stress plays a key role in hypoxic-ischemic and inflammatory brain injuries. We investigated the impact of hypothermia on oxidative stress in babi...
journal_title：Pediatric neurology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.pediatrneurol.2010.05.009
更新日期：2010-10-01 00:00:00
abstract：:The purpose of this study was to describe the spectrum of possible abnormal neurologic outcomes in term infants with intrapartum asphyxia and to identify those clinical factors associated with the later occurrence of cerebral palsy. All children with term intrapartum asphyxia encountered in a single pediatric neurolog...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.06.001
更新日期：2009-12-01 00:00:00
abstract：:l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with gene...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.01.008
更新日期：2012-03-01 00:00:00
abstract：:We assess the prevalence of vision problems in a cohort of low birth weight infants at age 2 years and the relationship of these problems to neonatal brain injury. Data on prenatal and neonatal history and brain injury status were prospectively collected on 721 children weighing 500-2,000 gm at birth enrolled in a mul...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章,多中心研究
doi：10.1016/0887-8994(96)00051-3
更新日期：1996-05-01 00:00:00
abstract：:The objective of this study is to compare the neurodevelopmental outcome between very low birth weight infants with and without sonographic disproportionate enlargement of occipital horn. We retrospectively reviewed the brain sonography of all very low birth weight infants born at National Taiwan University Hospital b...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00411-9
更新日期：2004-01-01 00:00:00
abstract：:Histologic changes in brains from mentally retarded patients are often subtle and may be limited to abnormalities in the dendritic and synaptic organization of the cerebral cortex. Special methods may be necessary for their demonstration. This review summarizes data on dendritic and synaptic pathology in human mental ...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/0887-8994(91)90001-2
更新日期：1991-03-01 00:00:00
abstract：:Epileptic activity, as a component of epileptic encephalopathies, can interfere with brain growth and development. Infantile spasms as a syndrome represent such epileptic activity during the period of spasms and hypsarrhythmia. The rate of head growth in infants with infantile spasms during the period of spasms has no...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2006.03.009
更新日期：2006-09-01 00:00:00
abstract：:Nerve growth factor (NGF) in cerebrospinal fluid was measured by ELISA in ten children with postinfectious diseases and in five children with diseases suggested to be of autoimmune etiology. Three groups of patients were studied: (1) those with moderately elevated concentrations (50.67 +/- 17.02 pg/mL, mean and SEM), ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00204-x
更新日期：1998-03-01 00:00:00
abstract：BACKGROUND:Congenital insensitivity to pain with anhidrosis is an extremely rare hereditary disorder linked to variants in NTRK1. Our goal was to characterize the clinical features and the genetic basis of the disorder in Chinese patients. METHODS:Patients were enrolled via social networking. Clinical features were in...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.04.006
更新日期：2016-08-01 00:00:00
abstract：:A 4 1/2-year-old girl with acquired immunodeficiency syndrome and prolonged varicella zoster virus skin infection developed multiple ischemic strokes and radiologic and histopathologic evidence of central nervous system vasculitis. Typical features of acquired immunodeficiency syndrome encephalitis were not present an...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(89)90013-1
更新日期：1989-01-01 00:00:00
abstract：BACKGROUND:Corpus callosum atrophy has been associated with cognitive and motor deficits in elderly people. However, the role of the corpus callosum in infant development is unclear. The aim of this study was to assess the impact of corpus callosum size on motor development in infants. METHODS:We investigated cerebral...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.10.012
更新日期：2015-02-01 00:00:00
abstract：:Amphetamine-derived medications are being prescribed with increasing frequency to younger pediatric patients to treat attention deficit hyperactivity disorder. Although choreiform movements were reported in adults with amphetamine abuse and in those under therapeutic treatment for attention deficit hyperactivity disor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.05.013
更新日期：2012-09-01 00:00:00
