Abstract：
:Tourette syndrome is a neurologic disorder characterized by both motor and vocal tics. Recently, two variants, including a single-base deletion resulting in a truncated protein and a 3'-untranslated-region variant altering a binding site for micro-RNA in the Slit and Trk-like 1 gene, were found to be a genetic cause of Tourette syndrome. The Slit and Trk-like 1 family was identified as neuronal transmembrane proteins that control neurite outgrowth. This study aimed to determine whether mutations in the gene can be found in Taiwanese patients with Tourette syndrome. In total, 160 patients were included. All children underwent peripheral blood sampling for genotype analyses. We sequenced the whole Slit and Trk-like 1 gene, including the promoter, the 3'-untranslated region, the 5'-untranslated region, and the whole coding region. We found that none of the 160 samples revealed any mutation in the whole gene sequence. In addition, there was only one polymorphism, c.3225 T>C, detected in 10 individuals. We conclude that in rare variants, it may be difficult to establish an association with disorder. Therefore, genetic screening in the Slit and Trk-like 1 gene for the recently identified mutations does not appear to be of utility in the diagnosis of Tourette syndrome.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Chou IC,Wan L,Liu SC,Tsai CH,Tsai FJdoi
10.1016/j.pediatrneurol.2007.06.017subject
Has Abstractpub_date
2007-12-01 00:00:00pages
404-6issue
6eissn
0887-8994issn
1873-5150pii
S0887-8994(07)00333-5journal_volume
37pub_type
杂志文章abstract：BACKGROUND:Excessive gum-chewing is underreported as a headache precipitant in children and adolescents. We evaluated the influence of daily excessive gum-chewing in older children and teenagers with chronic headache, emphasizing the impact of habit discontinuation and its reintroduction. METHODS:Patients with chronic...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2013.08.015
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:Acute intermittent porphyria is an inherited disease that is rarely diagnosed in prepubertal children. It can affect the autonomic, peripheral, and central nervous system. Posterior reversible encephalopathy syndrome is a clinicoradiological entity characterized by headache, seizures, altered consciousness, ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.05.016
更新日期：2014-09-01 00:00:00
abstract：:In this mixed-methods study, utilization data for disease-modifying therapies were reviewed to determine the adherence rate among our pediatric multiple sclerosis cohort. Adolescents were interviewed to explore their experiences with multiple sclerosis and the impact of peer relationships on adherence to treatment. Se...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.03.004
更新日期：2009-08-01 00:00:00
abstract：:Four children with self-inflicted strangulation injuries had cerebral blood flow determined by stable xenon computed tomography (XeCTCBF) within 24 hours of admission. All had suffered a severe hypoxic-ischemic cerebral injury; 3 initially had fixed pupils, all were apneic with varying bradyarrhythmias, and the initia...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(91)90068-v
更新日期：1991-09-01 00:00:00
abstract：:Fifteen children, 8 months of age or older, from a neonatal follow-up program underwent magnetic resonance imaging and neurologic, cognitive, and language evaluations. Magnetic resonance imaging findings in all children included increased white matter signal on T2-weighted images and ventricular enlargement adjacent t...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90020-2
更新日期：1990-09-01 00:00:00
abstract：:Hashimoto encephalopathy is a rare, clinically heterogenous condition. Its treatment is based on corticosteroids. A previously normal 12-year-old boy was admitted to our pediatric emergency department with status epilepticus. He experienced a recurrence of status epilepticus after pentobarbital withdrawal, and require...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.11.009
更新日期：2012-02-01 00:00:00
abstract：:Although peripheral vascular thrombic events are recognized as a serious extra-intestinal complication of inflammatory bowel disease, the occurrence of cerebral vascular events in association with acute exacerbations of this group of diseases is rare. In this article, relevant literature is reviewed and three children...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(00)00264-2
更新日期：2001-03-01 00:00:00
abstract：:Sleep disturbances are common among children and adolescents with attention deficit hyperactivity disorder. This study sought to evaluate the effects of individualizing wear times of the methylphenidate transdermal system on sleep parameters. In this open-label, randomized trial, 26 children with attention deficit hyp...
journal_title：Pediatric neurology
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.pediatrneurol.2011.09.003
更新日期：2011-12-01 00:00:00
abstract：:Four patients with the classic form and 1 patient with the connatal form of Pelizaeus-Merzbacher disease were studied with magnetic resonance imaging, electroencephalography, and multimodal evoked potentials, including brainstem auditory evoked potentials, somatosensory evoked potentials, and visual evoked potentials....
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)00124-k
更新日期：1995-01-01 00:00:00
abstract：:In patients who undergo metabolic decompensation from urea cycle disorders, cerebrospinal fluid glutamine level may be a better marker of cerebral dysfunction than blood ammonia or glutamine levels. However, obtaining cerebrospinal fluid by lumbar puncture carries risk in these acutely ill patients with cerebral edema...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.07.013
更新日期：2005-02-01 00:00:00
abstract：:This report describes the outcomes of 28 children who had severe head injuries between 13-18 years of age. All were unconscious at least 24 hours and have been followed at least 2 years after injury. At present, their ages range from 18 to 27 years. Their educational achievements, social activities, marital status, fu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(88)90079-3
更新日期：1988-11-01 00:00:00
abstract：:The mechanisms of death and neurologic sequelae in African children with cerebral malaria are undetermined. Because pathologic features are confined to the cerebral vasculature, perturbations in cerebral hemodynamics may be responsible. We compared the transcranial Doppler findings in 50 children with cerebral malaria...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(96)00115-4
更新日期：1996-07-01 00:00:00
abstract：BACKGROUND:High-risk infant follow-up programs provide early identification and referral for treatment of neurodevelopmental delays and impairments. In these programs, a standardized neurological examination is a critical component of evaluation for clinical and research purposes. METHODS:To address primary challenges...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.09.010
更新日期：2016-12-01 00:00:00
abstract：:The authors investigated by immunohistochemistry the distribution of protective protein in human tissues. Immunoreactivity was observed in the cytoplasm, revealing a granular pattern and cell type specificity. The most intense staining was observed in the large neurons of brain, distal and collecting tubular cells of ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00151-9
更新日期：1999-03-01 00:00:00
abstract：:Neonatal group B streptococcus meningitis causes neurologic morbidity and mortality. Cerebrovascular involvement is a common, poorly studied, and potentially modifiable pathologic process. We hypothesized that imaging patterns of focal brain infarction are recognizable in neonatal group B streptococcal meningitis. A c...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.11.002
更新日期：2011-04-01 00:00:00
abstract：:Reversible posterior leukoencephalopathy syndrome is a recently recognized disorder with characteristic radiologic findings that mainly involve the white/gray matter of the parieto-occipital lobes. This complex syndrome is associated with cyclosporine A therapy or a variety of other conditions in which blood pressure ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00265-x
更新日期：2001-05-01 00:00:00
abstract：:Records were reviewed of 17 patients, ages 4 months to 18 years, who had been diagnosed as having brain abscesses between 1975-1984. Serial computed tomography was used to guide treatment; consequently, 8 patients were managed medically and 9 received surgical intervention. All medically treated patients were free of ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(87)90080-4
更新日期：1987-05-01 00:00:00
abstract：:Primary malignant melanoma of the meninges is described in a 5-year-old boy who presented with a 3-month history suggestive of subacute meningitis. Clinically the diagnosis of tuberculous meningitis was made and antituberculous treatment was begun. Despite this treatment, the patient's condition continued to deteriora...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)00155-u
更新日期：1995-02-01 00:00:00
abstract：BACKGROUND:Very-low-birth-weight preterm infants have a higher rate of language impairments compared with children born full term. Early identification of preterm infants at risk for language delay is essential to guide early intervention at the time of optimal neuroplasticity. This study examined near-term structural ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2020.02.007
更新日期：2020-07-01 00:00:00
abstract：:The relatively high incidence of persistent post-traumatic headache and vertigo in children and adolescents presents a diagnostic and therapeutic challenge. It is often difficult to differentiate between functional complaints generated by psychological trauma or compensation-seeking and symptoms reflecting an organic ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(86)90058-5
更新日期：1986-03-01 00:00:00
abstract：:Epidermal nevus syndrome is a neurocutaneous disorder characterized by the association of epidermal nevi with central nervous system or skeletal abnormalities. Central nervous system abnormalities include hemimegalencephaly, hydrocephalus, various migration disorders, intraspinal lipomas, and enlarged spinal roots. Ra...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.06.016
更新日期：2008-10-01 00:00:00
abstract：:Central nervous system manifestations of acute myeloid leukemia are rare at presentation. Acute cranial nerve findings on neurologic examination can be indications for brain imaging. Magnetic resonance imaging can highlight cranial nerves emerging from the brainstem, particularly if they are gadolinium-enhanced or thi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.08.007
更新日期：2012-11-01 00:00:00
abstract：OBJECTIVE:We describe the trends in antiepileptic drug (AED) use in children and adolescents with epilepsy in the United States. METHODS:We undertook a cross-sectional study based on Medicaid Analytic eXtract data set from 26 US states. Children and adolescents aged three to 18 years with at least one year continuous ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2017.05.016
更新日期：2017-09-01 00:00:00
abstract：:Adenylosuccinate lyase deficiency is an autosomal recessive disorder of purine metabolism resulting from mutations in the ADSL gene on chromosome subband 22q13.1 and associated with a wide range of clinical manifestations. Although there is currently no effective treatment of ADSL deficiency, recognition of the condit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.06.007
更新日期：2010-11-01 00:00:00
abstract：OBJECTIVE:We evaluated the frequency of six commonly reported adult migraine premonitory symptoms in children and adolescents with episodic and chronic migraine and elicited psychological or behavioral comorbidities that may be associated with these symptoms. BACKGROUND:Premonitory symptoms are commonly reported in th...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2019.03.023
更新日期：2019-08-01 00:00:00
abstract：:Encephalopathy has been demonstrated to be associated with respiratory syncytial virus bronchiolitis. In this study, the data on all patients less than 14 years of age hospitalized with respiratory syncytial virus bronchiolitis over the past 4 years was reviewed. Patients who had concomitant diagnoses consistent with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.01.010
更新日期：2005-05-01 00:00:00
abstract：:Once-daily ethosuximide was used to treat 10 consecutive children with typical absence seizures. Three patients had gastrointestinal side effects which resolved when the same total daily dose was divided into 2 doses. Two other patients continued to have seizures on ethosuximide, whether given once or twice daily. Fiv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(90)90076-d
更新日期：1990-01-01 00:00:00
abstract：:Electrical status epilepticus during sleep syndrome and its variants are age-dependent epileptic encephalopathies associated with a sleep-related electroencephalographic pattern of continuous spike-waves, combined with motor or cognitive impairment. These epileptic encephalopathies are usually not responsive to conven...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2005.08.014
更新日期：2006-02-01 00:00:00
abstract：:Limited data are available on optic neuritis in Asian children. Clinical profiles tend to vary with different races. We aimed to determine the clinical manifestations, visual outcomes, and etiologies of optic neuritis in Malaysian children, and discuss the literature of optic neuritis in Asian children. A retrospectiv...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.02.020
更新日期：2012-05-01 00:00:00
abstract：:We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their resu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00216-9
更新日期：2003-08-01 00:00:00
