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Effective treatments for FGF12-related early-onset epileptic encephalopathies patients

期刊: BRAIN & DEVELOPMENT, 2021; 43 (8)

Background: FGF12 (FHF1) gene encodes voltage-gated sodium channel (Nav)-binding protein fibroblast growth factor homologous factor 1, which could cau......

Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks

期刊: BRAIN & DEVELOPMENT, 2021; 43 (1)

Purpose: Eating epilepsy was previously known as a kind of focal reflex epilepsy. However, the development of eating-induced multiple generalized seiz......

The changes in the topological properties of brain structural network based on diffusion tensor imaging in pediatric epilepsy patients with vagus nerve stimulators: A graph theoretical analysis

期刊: BRAIN & DEVELOPMENT, 2021; 43 (1)

Purpose: This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimu......

Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions

期刊: BRAIN & DEVELOPMENT, 2021; 43 (2)

Background: Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inher......

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

期刊: BRAIN & DEVELOPMENT, 2021; 43 (2)

Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a c......

The effect of different dietary structure on gastrointestinal dysfunction in children with cerebral palsy and epilepsy based on gut microbiota

期刊: BRAIN & DEVELOPMENT, 2021; 43 (2)

Background: Gastrointestinal (GI) difficulties are very common among children with cerebral palsy (CP) and comorbid epilepsy. GI function is influence......

Japanese encephalitis-induced anti-N-methyl-D-aspartate receptor encephalitis: A hospital-based prospective study

期刊: BRAIN & DEVELOPMENT, 2020; 42 (2)

Objectives: A hospital-based prospective study was performed to determine: 1) whether Japanese encephalitis (JE) normally triggers anti-N-methyl-D-asp......

Two autopsy cases of sudden unexpected death from Dravet syndrome with novel de novo SCN1A variants

期刊: BRAIN & DEVELOPMENT, 2020; 42 (2)

Aim: Dravet syndrome (DS) is characterized by high epilepsy-related premature mortality with a markedly young age at death, however, autopsy report of......

Clinical practice with steroid therapy for Duchenne muscular dystrophy: An expert survey in Asia and Oceania

期刊: BRAIN & DEVELOPMENT, 2020; 42 (3)

Background: Several studies on clinical practice for Duchenne muscular dystrophy (DMD) have been conducted in Western countries. However, there have b......

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria

期刊: BRAIN & DEVELOPMENT, 2020; 42 (4)

Purpose: We report on one patient with methylmalonic acidemia (MMA) who presented with symmetrical hemorrhage of the caudate nucleus accompanied by se......

Increased levels of NLRP3 in children with febrile seizures

期刊: BRAIN & DEVELOPMENT, 2020; 42 (4)

Objective: Febrile seizures (FS) are the most common convulsions in childhood. Interleukin-lbeta (IL-1 beta) is proposed to play an important role in ......

Brainstem auditory pathway function at four months of corrected postnatal age in preterm infants born below 30 week gestation

期刊: BRAIN & DEVELOPMENT, 2020; 42 (7)

Objective: Functional status of the brainstem auditory pathway was examined at four months of corrected postnatal age in infants born below 30 week ge......

Neonatal neuron specific enolase, a sensitive biochemical marker of neuronal damage, is increased in preeclampsia: A retrospective cohort study

期刊: BRAIN & DEVELOPMENT, 2020; 42 (8)

Background: Preeclampsia leads to chronic intrauterine hypoxia by interfering with placental blood supply. We aimed to investigate whether preeclampsi......

A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism

期刊: BRAIN & DEVELOPMENT, 2020; 42 (10)

Background: Agenesis of the corpus callosum (ACC) is a relatively common brain malformation in children with developmental disabilities, caused by mut......

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

期刊: BRAIN & DEVELOPMENT, 2019; 41 (10)

Background: ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. M......

JIF:1.76

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