A Model Program for Translational Medicine in Epilepsy Genetics.

abstract：:The few cases of antiphospholipid syndrome that have been reported in neonates are believed to have resulted from a transplacental transfer of antiphospholipid antibodies. Here we report on a boy with a neonatal stroke revealing a de novo primary antiphospholipid, the mother being free of antiphospholipid antibodies. ...

journal_title：Journal of child neurology

authors： Merlin E,Doré E,Chabrier S,Biard M,Marques-Verdier A,Stéphan JL

更新日期：2012-10-01 00:00:00

abstract：AIM:We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. METHOD:Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of ...

journal_title：Journal of child neurology

authors： Staples A,Thompson NR,Moodley M

更新日期：2020-07-01 00:00:00

abstract：:Vigabatrin has been studied in adult drug-resistant epilepsy since 1982 in single-blind and double-blind studies followed by long-term, open evaluations. These studies have provided evidence that vigabatrin is a potent and well-tolerated antiepileptic drug and support its potential value in pediatric epilepsy. The lac...

journal_title：Journal of child neurology

authors： Dam M

更新日期：1991-01-01 00:00:00

abstract：:Metabolic disorders constitute an important cause of neurologic disease, including infantile epilepsy. The inability to characterize seizures and epilepsy syndromes precisely in infants impedes the recognition of features suggestive of specific underlying metabolic and neurodegenerative etiologies. Classification syst...

journal_title：Journal of child neurology

authors： Nordli DR Jr,De Vivo DC

更新日期：2002-12-01 00:00:00

abstract：:The voltage-sensitive calcium channel probe 125I-omega-GVIA conotoxin has been shown to be a developmental marker in whole brain preparations of Swiss Webster mice. The present study looks more carefully at regional dissections of the mouse brain (cerebrum, cerebellum, and brain stem) at postnatal day 8 and postnatal ...

journal_title：Journal of child neurology

authors： Litzinger MJ,Mouritsen CL,Grover BB,Esplin MS,Abbott JR

更新日期：1994-01-01 00:00:00

abstract：:The cerebellum is involved in motor and cognitive functions and behavior. Its role in controlling epileptic seizures has been demonstrated in the literature. Genetic factors can enhance epilepsy susceptibility when the cerebellum is damaged. We examined the occurrence and features of epilepsy, intelligence, and psychi...

journal_title：Journal of child neurology

authors： Parmeggiani A,Posar A,Scaduto MC,Chiodo S,Giovanardi-Rossi P

更新日期：2003-01-01 00:00:00

abstract：:The potential benefits of functional magnetic resonance imaging (MRI) for the investigation of normal development have been limited by difficulties in its use with children. We describe the practical aspects, including failure rates, involved in conducting large-scale functional MRI studies with normal children. Two h...

journal_title：Journal of child neurology

authors： Byars AW,Holland SK,Strawsburg RH,Bommer W,Dunn RS,Schmithorst VJ,Plante E

更新日期：2002-12-01 00:00:00

abstract：:The 1960s were a period of great flowering in the recognition of neurologic disorders in children. The so-called ataxic cerebral palsies were an especially fertile field waiting for clarification. Congenital ataxia coupled with hyperpnea-apnea, abnormal eye movements, and retardation was identified as an autosomal-rec...

journal_title：Journal of child neurology

authors： Andermann F,Andermann E,Ptito A,Fontaine S,Joubert M

更新日期：1999-09-01 00:00:00

abstract：:The ultimate goal for management of patients with cerebral palsy is to help them grow up to become as independent as possible, learn to make their own choices in life, and pursue their own dreams. Optimal mobility is crucial to achieving independence and is also necessary for better health and quality of life in these...

journal_title：Journal of child neurology

authors： Brunstrom JE

更新日期：2001-01-01 00:00:00

abstract：:To evaluate the consistency of the Hammersmith Infant Neurological Examination scores of very-low-birth-weight infants at 6 and 12 months of age and its correlation to cranial ultrasonography findings, we designed a prospective study between January 2005 and January 2008, in the tertiary Neonatal Unit of Aristotle Uni...

journal_title：Journal of child neurology

authors： Karagianni P,Rallis D,Kyriakidou M,Tsakalidis C,Pratsiou P,Nikolaidis N

更新日期：2014-11-01 00:00:00

abstract：AIM:The present study aimed to investigate whether the response variability of infants to modified constraint-induced movement therapy and bimanual therapy are associated with different types of brain lesions. METHOD:Infants with unilateral cerebral palsy (N = 22) ages 8-15 months (mean = 10.95, standard deviation = 2...

journal_title：Journal of child neurology

authors： Chamudot R,Parush S,Rigbi A,Gross-Tsur V

更新日期：2018-12-01 00:00:00

abstract：:Baló concentric sclerosis is a unique and rare phenomenon in demyelinating disease. Typically thought of as a subtype of multiple sclerosis, Baló concentric sclerosis is characterized pathologically by striking rings of demyelination alternating with areas of preserved myelination. Its exact prevalence in adult and es...

journal_title：Journal of child neurology

authors： Linnoila J,Chitnis T

更新日期：2014-05-01 00:00:00

abstract：:Neonatal alloimmune thrombocytopenia results from platelet-antigen incompatibility between mother and fetus, leading to antibody-mediated destruction of fetal platelets. With a prevalence of 1 in 1000 births, approximately 4000 infants born in the United States each year develop neonatal alloimmune thrombocytopenia. T...

journal_title：Journal of child neurology

authors： Sharif U,Kuban K

更新日期：2001-11-01 00:00:00

abstract：:If behavior results from brain function, some evidence of dysfunction could be expected in children with major behavioral problems. Yet, neurophysiologic studies in these children are frequently normal. We hypothesized a relationship between maturational asymmetry and behavior, given the role of hemispheric imbalance ...

journal_title：Journal of child neurology

authors： Gerez M,Tello A,Serrano C,Ibarra R,Mallet A

更新日期：1999-02-01 00:00:00

abstract：:To report the authors' experience with diagnosis and management of Dravet syndrome, or severe myoclonic epilepsy in infancy, in the era of commercially available genetic testing, the authors performed a retrospective study of 16 patients diagnosed with Dravet syndrome at a tertiary care pediatric epilepsy center. They...

journal_title：Journal of child neurology

authors： Korff C,Laux L,Kelley K,Goldstein J,Koh S,Nordli D Jr

更新日期：2007-02-01 00:00:00

abstract：:This article assessed how Indian providers and mothers value quality of life in pediatric disabilities, hypothesizing lower values with increasing disability, lower values among providers than mothers, and lower values among mothers with versus mothers without a disabled child. We asked 175 participants: "If born tomo...

journal_title：Journal of child neurology

authors： Spiegel E,Jondhale S,Brajkovic I,Nesbit KC,Allen IE,Bhutani V,Kumar P,Partridge JC

更新日期：2018-08-01 00:00:00

abstract：:Healthy Chinese individuals (n = 168), aged from 24 hours to 30 years, were studied to establish the following normal values: (1) motor conduction velocity, distal latency, amplitude, and F-wave velocity in the median, ulnar, tibial, and peroneal nerves; (2) H-reflex velocity and latency in the tibial nerve for all su...

journal_title：Journal of child neurology

authors： Cai F,Zhang J

更新日期：1997-01-01 00:00:00

abstract：:Establishing consistency between cerebral palsy registries in reporting of new cases enables more effective collaboration in terms of researching predisposing factors. To identify antenatal and intrapartum risk factors for cerebral palsy in the Estonian population, we undertook a matched case-control study of 153 chil...

journal_title：Journal of child neurology

authors： Stelmach T,Pisarev H,Talvik T

更新日期：2005-08-01 00:00:00

abstract：:Multiple sclerosis onset in youth is increasingly recognized. A systematic review was conducted to assess incidence and prevalence of pediatric-onset multiple sclerosis, focusing on occurrence by age subgroups and disease course. A literature search for the period 1965-2018 was carried out, selecting population-based ...

journal_title：Journal of child neurology

authors： Jeong A,Oleske DM,Holman J

更新日期：2019-10-01 00:00:00

abstract：:Levetiracetam, one of the newer-generation antiepilepsy drugs, is not currently approved for use in children. Given its favorable efficacy, pharmacokinetic, and, particularly, safety profile in adults, we felt that it may be a useful antiepilepsy drug for children with refractory epilepsy. We treated 39 patients (mean...

journal_title：Journal of child neurology

authors： Wheless JW,Ng YT

更新日期：2002-06-01 00:00:00

abstract：:Sjögren-Larsson syndrome is an inherited disorder of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase, which results in accumulation of fatty aldehydes and alcohols and is characterized by ichthyosis, intellectual disability, and spastic diplegia/quadriplegia. The au...

journal_title：Journal of child neurology

authors： Davis K,Holden KR,S'Aulis D,Amador C,Matheus MG,Rizzo WB

更新日期：2013-10-01 00:00:00

abstract：:Hypertensive encephalopathy is an uncommon but recognized complication of malignant hypertension in children. We reviewed the clinical course, laboratory studies, and outcomes of 12 patients with hypertensive encephalopathy seen at the University of Iowa Hospitals and Clinics between 1979 and 1994. The most common pre...

journal_title：Journal of child neurology

authors： Wright RR,Mathews KD

更新日期：1996-05-01 00:00:00

abstract：:Muscular dystrophies are composed of a variety of genetic muscle disorders linked to different chromosomes and loci and associated with different gene mutations that lead to progressive muscle atrophy and weakness. Fukuyama congenital muscular dystrophy is frequently associated with partial and generalized epilepsy an...

journal_title：Journal of child neurology

authors： Tsao CY,Mendell JR

更新日期：2006-02-01 00:00:00

abstract：:In this report, we have summarized our 9-year experience of over 100 proven cases of lysosomal storage disease using electron microscopic evaluation of skin biopsies as a screening tool. The skin biopsy was very specific in establishing the diagnosis in only two disorders, namely neuronal ceroid lipofuscinosis and muc...

journal_title：Journal of child neurology

authors： Prasad A,Kaye EM,Alroy J

更新日期：1996-07-01 00:00:00

abstract：:This article describes a case of pyruvate dehydrogenase deficiency in a 3-year-old boy who presented generalized hypotonia, severe psychomotor development delay, and generalized and partial seizures and was refractory to antiepileptic drugs. After the diagnosis, the patient was put on a ketogenic diet. Six months late...

journal_title：Journal of child neurology

authors： Di Pisa V,Cecconi I,Gentile V,Di Pietro E,Marchiani V,Verrotti A,Franzoni E

更新日期：2012-12-01 00:00:00

abstract：:We analyzed clinical and instrumental data of 403 consecutive newborns with gestational age from 24 to 32 weeks, admitted to the University-Hospital of Parma between January 2000 and December 2007, to evaluate the possible relationship between neonatal mortality and occurrence of neonatal seizures in very preterm newb...

journal_title：Journal of child neurology

authors： Pisani F,Copioli C,Turco EC,Sisti L,Cossu G,Seri S

更新日期：2012-10-01 00:00:00

abstract：:There has been increasing awareness that there are behavioral phenotypes in tuberous sclerosis complex with neuropsychiatric symptom complex such as autistic disorder and attention-deficit hyperactivity disorder (ADHD). However, the neurobiologic basis of autistic disorder in tuberous sclerosis complex is still unknow...

journal_title：Journal of child neurology

authors： Wong V

更新日期：2006-03-01 00:00:00

abstract：:The goal of the research was to point out the importance of early prespeech therapy for babies suffering from at-birth-acquired unilateral or bilateral lesion in the prespeech period of development. On the basis of existing studies and experience in the field, a protocol and methodology for the observation of the phon...

journal_title：Journal of child neurology

authors： Gec V

更新日期：2007-01-01 00:00:00

abstract：:This is a case report of an otherwise healthy 2-year-old boy with a history of pica, associated with iron deficiency anemia. This boy was referred to our department for a neurologic evaluation because of an acute episode of sialorrhea, difficulty in speaking, dysphagia, and repeated swallowing movements. An uncertain ...

journal_title：Journal of child neurology

authors： Mihailidou H,Galanakis E,Paspalaki P,Borgia P,Mantzouranis E

更新日期：2002-11-01 00:00:00

abstract：:Transient neonatal myasthenia gravis is a postsynaptic neuromuscular transmission defect occurring in 21% of infants born to women with active (and, less commonly, in remission) acquired myasthenia gravis. Although passive-transfer acetylcholine receptor (AChR) antibodies are found in the majority of these newborns, t...

journal_title：Journal of child neurology

authors： Papazian O

更新日期：1992-04-01 00:00:00