Abstract:
:The paroxysmal dyskinesias (PxDs) are involuntary, intermittent movement disorders manifested by dystonia, chorea, athetosis, ballismus or any combination of these hyperkinetic disorders. Paroxysmal kinesigenic dyskinesia (PKD), one of the four main types of PxD, involves sudden attacks of dyskinesias induced by voluntary movements. PKD most commonly occurs sporadically or as an autosomal-dominant familial trait with variable penetrance. Many causes of secondary PKD are being recognized. The exact pathophysiology of the PxDs awaits further elucidation, although basal ganglia dysfunction appears to play a major role. Although the precise gene remains unknown, genetic linkage studies have isolated loci on chromosome 16, which colocalizes with the locus for familial infantile convulsions and paroxysmal choreoathetosis in some studies. The episodic nature of PKD and its relationship with other episodic diseases, such as epilepsy, migraine, and episodic ataxia, suggests channelopathy as a possible underlying etiology. PKD may remit spontaneously, but it also responds well to anticonvulsants as well as some other agents.
journal_name
Semin Pediatr Neuroljournal_title
Seminars in pediatric neurologyauthors
Lotze T,Jankovic Jdoi
10.1016/s1071-9091(02)00012-8keywords:
subject
Has Abstractpub_date
2003-03-01 00:00:00pages
68-79issue
1eissn
1071-9091issn
1558-0776pii
S1071-9091(02)00012-8journal_volume
10pub_type
杂志文章,评审abstract::Cerebral/cortical visual impairment (CVI) is characterized by higher order visual dysfunction caused by injury to the retrogeniculate visual pathways and brain structures which subserve visual processing. CVI has become the leading cause of significant vision loss in children in developed countries, but continues to b...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2019.05.005
更新日期:2019-10-01 00:00:00
abstract::A 13-year-old boy with Lennox-Gastaut syndrome characterized by absence, myoclonic, complex-partial, and secondarily generalized tonic-clonic seizures, presents with progressive obtundation and loss of motor and verbal skills over a 2-day period. Initial evaluation revealed therapeutic phenytoin serum concentrations. ...
journal_title:Seminars in pediatric neurology
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abstract::This article contains a discussion and detailed pictorial account of diagnostic and neurosurgical therapeutic procedures used to help pediatric patients who have medically intractable epilepsy. The operations discussed are placement of sphenoidal electrodes, strips and grids, temporal and extratemporal resections, cor...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2000.9219
更新日期:2000-09-01 00:00:00
abstract::A 5-year-old was admitted after an episode of loss of consciousness and an episode of convulsive activity. Information that aids in differentiating seizures and syncope is discussed. ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2008.10.003
更新日期:2008-12-01 00:00:00
abstract::Epilepsy in children is mostly diagnosed and treated in an ambulatory office setting. This article reviews the literature and offers opinions about the best practice from the time of diagnosis through to remission and beyond. The diagnosis and assignment of an epilepsy syndrome may be difficult, and even experts disag...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2006.09.001
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journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2013.01.001
更新日期:2013-03-01 00:00:00
abstract::Transition from pediatric to adult healthcare is a well-established challenge for individuals with neurodevelopmental disorders like cerebral palsy. With regard to ethics, some of the key aspects to explore include the following: if and how individuals feel respected during the transition process; if and how their val...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2013.06.009
更新日期:2013-06-01 00:00:00
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journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(00)80006-6
更新日期:2000-03-01 00:00:00
abstract::Infections of the central nervous system are a significant cause of neurologic dysfunction in resource-limited countries, especially in Africa. The prevalence is not known and is most likely underestimated because of the lack of access to accurate diagnostic screens. For children, the legacy of subsequent neurodisabil...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2014.02.003
更新日期:2014-03-01 00:00:00
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journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2018.02.003
更新日期:2018-04-01 00:00:00
abstract::Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2008.05.003
更新日期:2008-09-01 00:00:00
abstract::Routine serum antiepileptic (AED) drug levels and laboratory monitoring for drug toxicity have crept into clinical practice. The value of these routines is uncertain. Serum drug levels do not clearly improve seizure control, predict adverse effects, or influence compliance. Routine laboratory testing appears neither s...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:
更新日期:1994-12-01 00:00:00
abstract::A brain, a neural structure located in the head, differs from a ganglion by the following characteristics: (1) a brain subserves the entire body, not just restricted segments; (2) it has functionally specialized parts; (3) it is bilobar; (4) commissures and neurons form the surface with axons in the central core; (5) ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2002.32502
更新日期:2002-12-01 00:00:00
abstract::Scoliosis, common in preadolescent females is a finding which warrants investigation in any other age group or if the clinical or neuroimaging features are atypical even in the preadolescent female. The cause of scoliosis are numerous but include several important conditions some of which are treatable and some of whi...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/s1071-9091(96)80011-8
更新日期:1996-09-01 00:00:00
abstract::Ethical issues in the critical care unit frequently arise in children with neurological problems. These ethical issues frequently challenge our medical management of such cases and can be quite problematic. This article reviews key ethical issues that may arise including informed consent, futility, justice/rationing, ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2004.03.012
更新日期:2004-06-01 00:00:00
abstract::In this article, I consider in what sense bioethics is philosophical. Philosophy includes both analysis and synthesis. Analysis focuses on central concepts in a domain, for example, informed consent, death, medical futility, and health. It is argued that analysis should avoid oversimplification. The synthesis or synop...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.05.005
更新日期:2015-09-01 00:00:00
abstract::Migraine is a commonly occurring headache syndrome in children and adolescents. Half of all individuals destined to have migraine begin their attacks before age 20 years. It is characterized by paroxysmal headache, nausea, vomiting, and desire to sleep. On occasion, dramatic neurological symptoms and signs accompany t...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/s1071-9091(05)80023-3
更新日期:1995-06-01 00:00:00
abstract::Migraine is the most frequent type of headache in children. In the 1980s, scientists first hypothesized a connection between migraine and mitochondrial (mt) disorders. More recent studies have suggested that at least some subtypes of migraine may be related to a mt defect. Different types of evidence support a relatio...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2013.09.002
更新日期:2013-09-01 00:00:00
abstract::The cerebral cortex is the area of the brain where higher-order cognitive processing occurs. The 2 hemispheres of the cerebral cortex communicate through one of the largest fiber tracts in the brain, the corpus callosum. Malformation of the corpus callosum in human beings occurs in 1 in 4000 live births, and those aff...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2009.07.003
更新日期:2009-09-01 00:00:00
abstract::Significant advancements have been made in early intervention programs for children with Autism spectrum disorder (ASD). However, measuring treatment response for children with ASD is difficult due to the heterogeneity of changes in symptoms, which can be subtle, especially over a short period of time. Here we outline...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100806
更新日期:2020-07-01 00:00:00
abstract::Autism spectrum disorder (ASD) is a multifactorial, pervasive neurodevelopmental disorder defined by the core symptoms of significant impairment in social interaction and communication as well as restricted, repetitive patterns of behavior. In addition to these core behaviors, persons with ASD frequently have associat...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2020.100833
更新日期:2020-10-01 00:00:00
abstract::An acute flaccid paraparesis or ascending quadriparesis in an infant or child constitutes a very important pediatric neurology emergency. The Guillain-Barré syndrome (GBS) is the most frequent cause. This is primarily an autoimmune, post-infectious, demyelinating, peripheral nervous system process. A small percentage ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1053/pb.2000.6690
更新日期:2000-06-01 00:00:00
abstract::Pediatric neurologists frequently encounter patients who present with significant musculoskeletal pain that cannot be attributed to a specific injury or illness, which can often be defined as pain amplification syndrome (PAS). PAS in children and adolescents is the result of a heightened pain sensitivity pathway, whic...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2016.10.006
更新日期:2016-08-01 00:00:00
abstract::The occurrence of seizures in the sleep state is observed in nearly one third of patients. This is caused by an intimate relationship between the physiological state of sleep and the pathological process underlying epileptic seizures. Both sleep and sleep deprivation influence the frequency of epileptiform discharges ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2008.03.007
更新日期:2008-06-01 00:00:00
abstract::Childhood stoke is increasingly recognized, but studies remain largely descriptive. Important differences from adult stroke include the following: (1) frequently delayed or missed diagnosis, (2) heterogenous and overlapping risk factors, and (3) developmental differences in the cerebrovascular, neurologic, and coagula...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2000.20074
更新日期:2000-12-01 00:00:00
abstract::Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumours] and the central and peripheral nervous system [with congenital abnormalities and/or tumours]. In a number of such disorders, the skin abnormalities can assume a...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2015.11.001
更新日期:2015-12-01 00:00:00
abstract::Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2006.01.005
更新日期:2006-03-01 00:00:00
abstract::Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章
doi:10.1016/j.spen.2012.03.006
更新日期:2012-06-01 00:00:00
abstract::Cyclic vomiting is a variant of migraine that is discussed in depth. The importance of the diagnostic criteria, differential diagnosis, supportive and pharmacologic therapies is stressed. ...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1053/spen.2001.23456
更新日期:2001-03-01 00:00:00
abstract::The ultimate goal of treating status epilepticus is to provide the best opportunity for a good outcome. This review discusses the current literature on the outcome after status epilepticus in children, including the risk of recurrence, morbidity, and mortality. The outcome seems most dependent on etiology, with age an...
journal_title:Seminars in pediatric neurology
pub_type: 杂志文章,评审
doi:10.1016/j.spen.2010.06.012
更新日期:2010-09-01 00:00:00