Compound heterozygous polymerase gamma gene mutation in a patient with Alpers disease.

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

authors： Larivière-Bastien D,Bell E,Majnemer A,Shevell M,Racine E

更新日期：2013-06-01 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

authors： Yorns WR Jr,Hardison HH

更新日期：2013-09-01 00:00:00

abstract：:Children with neurologic conditions benefit from international conventions, and national treaties, policies and regulations that safeguard their human rights. These regulations also exist to serve as guidance in the creation of comprehensive systems of care, inclusive environments, accessible societies and communities...

journal_title：Seminars in pediatric neurology

authors： Shikako-Thomas K,Shevell M

更新日期：2018-10-01 00:00:00

abstract：:Many genetic conditions can result in ataxia. Careful clinical, radiologic, and genetic evaluation permits the specific diagnosis of many of these conditions, which in turn facilitates medical care for the patient and genetic counseling for the patient and family. Predictive, prenatal, and carrier testing are possible...

journal_title：Seminars in pediatric neurology

authors： Nance MA

更新日期：2003-09-01 00:00:00

abstract：:Protein misfolding and aggregation are common to many disorders, including neurodegenerative diseases referred to as "conformational disorders," suggesting that alterations in the normal protein homeostasis might contribute to pathogenesis. Cells evolved 2 major components of the protein quality control system to deal...

journal_title：Seminars in pediatric neurology

authors： Outeiro TF,Tetzlaff J

更新日期：2007-03-01 00:00:00

abstract：:The training of the child neurologist in the fundamentals of neurology is discussed. Although the fundamentals of neurology are clearly necessary for the practice of child neurology, the breadth of the background necessary for the practice of child neurology depend on the interest, enthusiasm, and goals of the residen...

journal_title：Seminars in pediatric neurology

authors： Bodensteiner J

更新日期：2011-06-01 00:00:00

abstract：:Magnetic resonance imaging (MRI) has contributed dramatically to our understanding of the newborn with neurologic problems. Recently developed magnetic resonance techniques, such as fetal MRI and MR spectroscopy, offer additional insight into normal and pathologic processes affecting the fetal and neonatal CNS. This a...

journal_title：Seminars in pediatric neurology

authors： Bangert BA

更新日期：2001-06-01 00:00:00

abstract：:A 6-year-old girl had reduced fetal movements, numerous apneic spells, muscle hypotonia, and developmental motor delay. Her muscle biopsy tissue showed variation in myofiber diameters, small minicores by electron microscopy, and near-uniformity of type I fibers. Although no mutations were detected in RYR1, SEPN1, and ...

journal_title：Seminars in pediatric neurology

authors： Radke J,Dreesmann M,Radke M,von Moers A,Abicht A,Stenzel W,Goebel HH

更新日期：2018-07-01 00:00:00

abstract：:Astrocytes have long been forgotten entities in our quest to understand brain function. Over the last few decades, there has been an exponential increase in our knowledge of central nervous system (CNS) function, and, consequently, astrocytes have emerged as key figures in CNS physiology and disease. Indeed, several p...

journal_title：Seminars in pediatric neurology

authors： Chaboub LS,Deneen B

更新日期：2013-12-01 00:00:00

abstract：:In this review, we discuss the important pathological lesions observed in temporal lobectomies and neocortical resections performed for medically refractory seizures in children. A higher percentage of pediatric cases appear to be "lesional" with computed tomography (CT) and magnetic resonance imaging (MRI) and abnorm...

journal_title：Seminars in pediatric neurology

authors： Jay V,Becker LE

更新日期：1995-09-01 00:00:00

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

authors： Iskandar BJ,Ramirez LF

更新日期：2000-09-01 00:00:00

abstract：:The heterogeneous childhood limb-girdle muscular dystrophies have originally been defined as a group of autosomal recessive and dominant diseases with progressive weakness and wasting of shoulder and pelvic-girdle muscles. Over the last 12 years, the underlying genetic defects for many of the diseases have been identi...

journal_title：Seminars in pediatric neurology

authors： Straub V,Bushby K

更新日期：2006-06-01 00:00:00

abstract：:Imaging of the brachial plexus and peripheral nerves is challenging in the pediatric patient. Magnetic resonance imaging is the modality of choice as it is not invasive and demonstrates proximal and distal lesions. This may be used to detect nerve root avulsions, nerve ruptures, pseudo-meningoceles, brachial plexus sc...

journal_title：Seminars in pediatric neurology

authors： Birchansky S,Altman N

更新日期：2000-03-01 00:00:00

abstract：:The nature of sleep-related breathing problems varies with age. Ventilatory function may be compromised at the level of the brainstem, the autonomic nerves, or the upper airway musculature. These disorders are state-dependent, being impacted by both rapid eye movement and non-rapid eye movement sleep, and also by the ...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：2003-12-01 00:00:00

abstract：:Herpes simplex virus type 2 (HSV-2) is known to cause acute retinal necrosis (ARN). The availability of HSV-2-specific polymerase chain reaction tests for diagnostic analysis has greatly increased our ability to discriminate ARN caused by HSV-2 from ARN caused by either herpes simplex virus type 1 or varicella zoster ...

journal_title：Seminars in pediatric neurology

authors： Grose C

更新日期：2012-09-01 00:00:00

abstract：:Numerous neurosurgical approaches are available for children presenting with hypothalamic hamartomas (HHs) associated with severe epilepsy. A concern regarding the impairment of short-term memory after resective surgery is promoting the exploration of less invasive alternatives like radiosurgery. Gamma knife radiosurg...

journal_title：Seminars in pediatric neurology

authors： Régis J,Scavarda D,Tamura M,Villeneuve N,Bartolomei F,Brue T,Morange I,Dafonseca D,Chauvel P

更新日期：2007-06-01 00:00:00

abstract：:The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in ...

journal_title：Seminars in pediatric neurology

authors： Macmillan C

更新日期：1998-03-01 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

authors： Dooley JM

更新日期：1994-12-01 00:00:00

abstract：:Training in child neurology requires formal training in other aspects of pediatrics. This pediatrics training affords the ability to obtain a developmentally appropriate history and physical examination at all stages of childhood and adolescence and to provide anticipatory guidance to children and families of all deve...

journal_title：Seminars in pediatric neurology

authors： Schor NF

更新日期：2011-06-01 00:00:00

abstract：:The interaction between sleep and headache or migraine is powerful and an elevated comorbidity between these 2 disorders has been reported in either adults or children. This comobidity is linked to common neurophysiological and neuroanatomical substrates that are genetically based strongly. The first reports on this r...

journal_title：Seminars in pediatric neurology

authors： Dosi C,Figura M,Ferri R,Bruni O

更新日期：2015-06-01 00:00:00

abstract：:Cytomegalovirus (CMV) is the most common congenital virus passed from mother to fetus in the United States, and the most common acquired cause of sensorineural hearing loss. Neuroimaging in patients with symptomatic congenital CMV demonstrates abnormalities frequently, but many providers are unaware of the extent of t...

journal_title：Seminars in pediatric neurology

authors： Moresco BL,Svoboda MD,Ng YT

更新日期：2018-07-01 00:00:00

abstract：:Intracranial pressure (ICP) and skull volume are intricately related. Craniosynostosis alters skull volume, and the many forms of craniosynostosis complicate the relationship to ICP even further. Patients with single-suture synostosis are less likely to experience elevated ICP than patients in whom multiple sutures, c...

journal_title：Seminars in pediatric neurology

authors： Bristol RE,Lekovic GP,Rekate HL

更新日期：2004-12-01 00:00:00

abstract：:Childhood narcolepsy is frequently under-diagnosed. Hypersomnolence may not always be accompanied by cataplexy, sleep paralysis, or hypnagogic hallucinations in the early stages. Pathophysiologic considerations revolve around an altered central nervous system catecholamine-acetylcholine balance. Both idiopathic and sy...

journal_title：Seminars in pediatric neurology

authors： Kotagal S

更新日期：1996-03-01 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

authors： Barnes PD

更新日期：1996-09-01 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

authors： Tonsgard JH

更新日期：2006-03-01 00:00:00

abstract：:A seven year-old male presented to his pediatrician with choreiform movements and a recent history of sore throat. He was diagnosed with Sydenham's chorea based on clinical criteria and laboratory evidence. Worsening symptoms prompted a magnetic resonance imaging (MRI) of the brain which demonstrated evidence of Moyam...

journal_title：Seminars in pediatric neurology

authors： Cardenas JF,Chapman K

更新日期：2010-03-01 00:00:00

abstract：:Postural tachycardia syndrome is a chronic condition with frequent symptoms of orthostatic intolerance or sympathetic activation and excessive tachycardia while standing, without significant hypotension. Orthostatic symptoms include dizziness, lightheadedness, blurring of vision, near faints, weakness in legs, poor co...

journal_title：Seminars in pediatric neurology

authors： Jarjour IT

更新日期：2013-03-01 00:00:00

abstract：:An 11-year-old girl presented with a syndrome of inappropriate antidiuretic hormone secretion, which was transitory and, initially, of obscure origin. Subsequently, the patient's hypothalamic disorder emerged as a component of a steroid-responsive relapsing encephalomyelitis with cerebral pathology restricted to the b...

journal_title：Seminars in pediatric neurology

authors： Breningstall GN

更新日期：1999-09-01 00:00:00

abstract：:It was not too long ago that being struck violently in the head or "getting your bell rung" was often brushed off as nothing to worry about. These days the pendulum has swung and there is growing appreciation that this mild traumatic brain injury (mTBI), often called concussion, must be taken seriously and is now on t...

journal_title：Seminars in pediatric neurology

authors： Kerrigan JM,Giza CC

更新日期：2019-07-01 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

authors： Kotagal P,Yardi N

更新日期：2008-06-01 00:00:00