Abstract：
:The purpose of this study was to search for STA gene defects in three families with clinically typical Emery-Dreifuss muscular dystrophy. Emery-Dreifuss is an X-linked muscular dystrophy with humeroperoneal weakness and life-threatening, but treatable, cardiac abnormalities in male patients and in female carriers. The defect is in the gene coding for emerin, a 254 amino acid protein of unknown function. Complementary and genomic DNA from T lymphocytes from the reported patients and their family members were amplified, cloned, and sequenced. A novel mutation, a 26 base-pair deletion in three brothers and a carrier mother, was detected in one family. A splicing mutation with one base pair insertion and a five base-pair deletion, which have been described previously, were found in the second and third families, respectively. The additional novel mutation detected and the findings of three different mutations in these three families support the idea of genetic heterogeneity of Emery-Dreifuss muscular dystrophy with different mutations in different families.
journal_name
Pediatr Neuroljournal_title
Pediatric neurologyauthors
Nevo Y,Al-Lozi M,Parsadanian AS,Elliott JL,Connolly AM,Pestronk Adoi
10.1016/s0887-8994(99)00023-5subject
Has Abstractpub_date
1999-07-01 00:00:00pages
456-9issue
1eissn
0887-8994issn
1873-5150pii
S0887-8994(99)00023-5journal_volume
21pub_type
杂志文章abstract：:A retrospective review of children with epilepsy and obstructive sleep apnea, treated surgically for their obstructive sleep apnea from January 2008-October 2010, was performed for age, sex, type of epilepsy, antiseizure medications, sleep-study data, and changes in seizure frequency. Twenty-seven subjects (median age...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2012-06-01 00:00:00
abstract：:Our knowledge of mitochondrial respiratory chain diseases has increased dramatically in recent years, but relatively little information is available about their prevalence and incidence, either in pediatric or adult patients. This study reports incidence and prevalence estimates, and summarizes the clinical, biochemic...
journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2006-03-01 00:00:00
abstract：:Clinical and laboratory findings of 25 patients with classical Cockayne syndrome (CS) are reviewed. A history of consanguinity was present in 21 patients, and 15 patients had at least 1 affected sibling. Apart from the cardinal features of dwarfism, microcephaly, and mental retardation, the most consistent clinical fe...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(96)00229-9
更新日期：1996-11-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
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更新日期：2009-09-01 00:00:00
abstract：:We report a 13-year-old female with refractory frontal lobe epilepsy in whom diffusion tensor imaging was useful for exploring subtle cortical malformation. She had frequent simple partial seizures characterized by clonic movement of the right upper extremity. Conventional magnetic resonance imaging was not conclusive...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.03.010
更新日期：2004-09-01 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：: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：:Psychogenic seizures or psychogenic nonepileptic seizures occur in various mental disorders. Obsessive-compulsive symptoms can also imitate epileptic partial seizures, but detailed observations of this phenomenon are rare in the literature. A girl of 13 years was referred to the Department of Child Psychiatry because ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00135-5
更新日期：1998-01-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(97)00048-9
更新日期：1997-09-01 00:00:00
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journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90062-0
更新日期：1994-02-01 00:00:00
abstract：:Musicogenic epilepsy is a relatively rare form of epilepsy. In its pure form, it is characterized by epileptic seizures that are provoked exclusively by listening to music. The usual type of seizure is partial complex or generalized tonic-clonic. Precipitating factors are quite specific, such as listening to only one ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(03)00011-0
更新日期：2003-05-01 00:00:00
abstract：:Visual symptomatology in childhood often presents diagnostic difficulties. Recurrent paroxysmal visual complaints, although typically associated with migraine, may also signal other disorders. We describe a 9-year-old partially sighted male with paroxysmal zoopsias resulting from Charles Bonnet syndrome. This conditio...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(01)00358-7
更新日期：2002-02-01 00:00:00
abstract：:The ability to predict long-term neurologic and neuropsychologic outcomes in 22 children, ages 1 week to 14 years at the time of traumatic brain injury, was investigated using proton magnetic resonance spectroscopy acquired post injury and compared with standardized neurologic, intellectual, and neuropsychologic testi...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(02)00491-5
更新日期：2003-02-01 00:00:00
abstract：:Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portu...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.10.005
更新日期：2012-01-01 00:00:00
abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory acquired demyelinating syndrome predominantly affecting the white matter of the central nervous system. METHODS:We describe a three-year-old boy whose clinical presentation was suspicious for ADEM but whose initial imaging abnor...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2016.12.006
更新日期：2017-03-01 00:00:00
abstract：:Balamuthia amebic encephalitis is rarely reported in infants. To the best of our knowledge, amebic encephalitis complicated by a mycotic aneurysm was only described once. We report on an 8-month-child with laboratory-confirmed Balamuthia mandrillaris meningoencephalitis, complicated by a mycotic aneurysm of the middle...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2011.05.003
更新日期：2011-07-01 00:00:00
abstract：BACKGROUND:ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineu...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/j.pediatrneurol.2014.09.015
更新日期：2015-01-01 00:00:00
abstract：:We report a patient with BH(4)-sensitive phenylketonuria. In neonatal screening, phenylalanine levels above 10 mg/dl were detected. In the tetrahydrobiopterin- (BH(4)) loading test, phenylalanine concentrations in serum fell significantly. Dihydropteridine reductase activity in blood, pterines, and neurotransmitters i...
journal_title：Pediatric neurology
pub_type： 杂志文章,评审
doi：10.1016/s0887-8994(02)00516-7
更新日期：2003-03-01 00:00:00
abstract：INTRODUCTION:Spinal teratomas are extremely rare; they constitute <0.5% of all spinal cord tumors. These rare tumors have nonspecific manifestations but in most cases are accompanied by neurological deficits. Rupture of a mature teratoma can cause chemical meningitis. PATIENT DESCRIPTION:A 7-year-old boy presented wit...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.02.005
更新日期：2014-06-01 00:00:00
abstract：:Cefepime toxicity is characterized by altered mental status, confusion, and decreased responsiveness. We describe a 14-year-old girl who developed acute encephalopathy associated with supratherapeutic cefepime concentrations in the setting of acute renal failure. The authors were unable to identify any previous report...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2012.08.017
更新日期：2012-12-01 00:00:00
abstract：:Möbius syndrome is a rare congenital disease characterized by the paralysis of the facial nerve, accompanied by impaired ocular abduction. We have performed an extensive mutation analysis on a recently identified positional candidate gene, PLEXIN-D1, for Möbius syndrome 2 mapping to chromosome 3q21-q22. Southern analy...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2004.02.004
更新日期：2004-08-01 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：:We sought to distinguish patients testing positive for human herpesvirus 6 from those testing negative, based on clinical features and magnetic resonance images. Sixteen immunosuppresed patients were tested by polymerase chain reaction for human herpes virus 6 DNA in cerebrospinal fluid (nine positive results). Medica...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2009.07.014
更新日期：2010-01-01 00:00:00
abstract：BACKGROUND:Microcephaly-capillary malformation syndrome is a newly described neurocutaneous entity that is characterized by congenital and progressive microcephaly, intractable epilepsy, profound developmental delay, multiple small capillary malformations on the skin, and poor somatic growth. Recently, mutations in the...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2014.07.006
更新日期：2014-10-01 00:00:00
abstract：:Cloxazolam has been used mainly as an anxiolytic agent. The present study was designed to evaluate the effectiveness of cloxazolam as an add-on antiepileptic drug in patients with intractable epilepsy. A total of 32 patients with intractable epilepsy were treated with cloxazolam: 13 with generalized epilepsy, 15 with ...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2010.06.005
更新日期：2010-12-01 00:00:00
abstract：:To investigate ophthalmologic manifestations in children with definitive oxidative phosphorylation disorders, a retrospective review was conducted of clinical and laboratory records of all such pediatric patients (n = 103) diagnosed and treated at one center between 1983 and 2006. All were residents of Victoria, Austr...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/j.pediatrneurol.2008.02.003
更新日期：2008-06-01 00:00:00
abstract：:Insufficient nutrition is known to lead to disturbances in postnatal myelin formation. This study aims to demonstrate that early myelination is altered in human twin pregnancies. Five brains of twins with a symmetric blood supply and three brains of twins with chronic fetal-fetal transfusion syndrome (one hypervolemic...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/s0887-8994(98)00068-x
更新日期：1998-10-01 00:00:00
abstract：:The diagnosis of postinfectious encephalomyelitis with symmetric lesions in the basal ganglia was confirmed by magnetic resonance imaging in 2 patients. A 7-year-old patient experienced severe dystonia and hyperreflexia; magnetic resonance imaging demonstrated bilateral lesions in the putamina and basis pontes. The ot...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(89)90024-6
更新日期：1989-09-01 00:00:00
abstract：:The etiology of Behr syndrome remains uncertain. A 6-year-old girl with a progressive syndrome of optic atrophy, ataxia, myoclonic epilepsy, urinary incontinence, and pyramidal tract degeneration suggestive of Behr syndrome is described. Diffuse, symmetric white matter abnormalities were demonstrated by magnetic reson...
journal_title：Pediatric neurology
pub_type： 杂志文章
doi：10.1016/0887-8994(94)90033-7
更新日期：1994-05-01 00:00:00
abstract：:Chronic oral VP-16 (etoposide) is a chemotherapy regimen with a wide application in oncology and documented efficacy against germ cell tumors, lymphomas, Kaposi's sarcoma, and primary brain tumors. This study was performed to assess the toxicity and activity of chronic oral etoposide in the management of children with...
journal_title：Pediatric neurology
pub_type： 临床试验,杂志文章
doi：10.1016/s0887-8994(00)00249-6
更新日期：2001-02-01 00:00:00
