Abstract:
OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, proline-rich transmembrane protein 2 (PRRT2) gene variant, clinical features of PKD, dose of LCM, efficacy, and adverse events were recorded. RESULTS:Four eligible patients (3 males, 1 female) were identified, with an age of onset ranging from 8.3 to 14.7 years. PRRT2 variant was evaluated in three children and a c.649dupC variant was identified in one child with a positive family history. Attacks were bilateral in three children and left-sided in one. Two children had a family history of PKD and one child had a family history of benign infantile epilepsy. Treatment with carbamazepine failed in two children due to drowsiness and auditory disturbance. The initial dose of LCM was 50 mg/day in three children and 100 mg/day in one. All patients were attack-free within a few days. The maintenance dose was mostly similar to the initial dose. No adverse events related to LCM were reported during follow-up. CONCLUSIONS:LCM is an effective and well-tolerated treatment for PKD in children, and low-dose treatment may be viable.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Furukawa G,Negishi Y,Takeuchi T,Ishihara N,Okumura Adoi
10.1016/j.braindev.2020.04.009subject
Has Abstractpub_date
2020-09-01 00:00:00pages
617-620issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30136-4journal_volume
42pub_type
abstract::Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.03.013
更新日期:2019-08-01 00:00:00
abstract::A 5-year-old female case of 5p-syndrome exhibited pontine hypoplasia on magnetic resonance imaging. A high-pitched cry characteristic of 5p-syndrome disappeared after 2 years. 5p-syndrome should be considered as a differential diagnosis for brainstem, especially pontine, hypoplasia. Older patients with brainstem hypop...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.07.003
更新日期:2010-08-01 00:00:00
abstract::Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80060-7
更新日期:1985-01-01 00:00:00
abstract::Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...
journal_title:Brain & development
pub_type: 杂志文章,评审
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更新日期:2017-05-01 00:00:00
abstract::A 14-year-old patient with a right parietal arteriovenous malformation presented with seizures characterized by metamorphopsia of faces. Unlike adults with right hemisphere pathology she performed like an age matched control on a task requiring recognition of unfamiliar faces. This likely reflects maturational changes...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80059-0
更新日期:1985-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90128-7
更新日期:1994-09-01 00:00:00
abstract::Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80117-6
更新日期:1986-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.08.007
更新日期:2021-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80045-3
更新日期:1991-11-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80123-9
更新日期:1991-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.12.010
更新日期:2014-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.005
更新日期:2012-05-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.06.004
更新日期:2009-05-01 00:00:00
abstract::CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.02.008
更新日期:2020-06-01 00:00:00
abstract:BACKGROUND:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.08.013
更新日期:2020-01-01 00:00:00
abstract::The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.04.015
更新日期:2014-04-01 00:00:00
abstract:OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.04.002
更新日期:2011-01-01 00:00:00
abstract:PURPOSE:To assess the efficacy of diazepam suppositories at preventing febrile seizure recurrence during a single febrile illness to determine how to treat children with a febrile seizure on presentation at the hospital. METHODS:We studied 203 children with febrile seizures from December 2004 through March 2006. On ad...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.010
更新日期:2009-06-01 00:00:00
abstract::The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80042-x
更新日期:1979-01-01 00:00:00
abstract::The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80065-4
更新日期:1981-01-01 00:00:00
abstract::The diagnosis of fragile X A syndrome (FRAXA) during childhood depends largely on DNA-based diagnostic tests due to the lack of the specific clinical features. To determine a non-invasive screening method for fragile X syndrome, we studied the method of DNA-based diagnosis using urine or hair roots instead of routinel...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2003.11.002
更新日期:2004-09-01 00:00:00
abstract::Two cases of status epilepticus are reported, whose seizures responded well to the injection of flunitrazepam. One patient had generalized tonic clonic seizures and the other had partial seizures. The improvement of their condition was confirmed by both clinical and electroencephalographic examinations. There were no ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80066-4
更新日期:1988-01-01 00:00:00
abstract:PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.06.001
更新日期:2016-11-01 00:00:00
abstract::Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(93)90081-i
更新日期:1993-11-01 00:00:00
abstract::Neurofibrillary tangles (NFTs) have been shown in 20% of subacute sclerosing panencephalitis (SSPE) cases. NFTs contain paired helical filaments formed by hyperphosphorylated tau. The intraneuronal tau metabolism and the rate of formation of paired helical filaments can be regulated by interactions between tau and iso...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.07.001
更新日期:2012-04-01 00:00:00
abstract::Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.03.013
更新日期:2010-03-01 00:00:00
abstract::Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.09.014
更新日期:2012-08-01 00:00:00
abstract::The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00003-7
更新日期:2002-04-01 00:00:00
abstract::Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.10.007
更新日期:2006-06-01 00:00:00
abstract::Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2019.04.010
更新日期:2019-09-01 00:00:00