Brain & Development

Papers
(The median citation count of Brain & Development is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-12-01 to 2025-12-01.)
ArticleCitations
Associations between cerebrospinal fluid pressure levels, clinical features, and MRI abnormalities in pediatric idiopathic intracranial hypertension: A retrospective study27
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy24
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy23
Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy20
New Year’s greetings19
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study18
Current state of hemispherectomy and callosotomy for pediatric refractory epilepsy in Denmark17
Acknowledgments to Anonymous Reviewers in 202317
Association of O blood type with the prognosis of acute necrotizing encephalopathy in childhood: A single-center cohort study16
Potential of arterial spin labeling in elucidating the pathogenesis of the splenium of the corpus callosum and cerebellar dentate nucleus in encephalopathy14
A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis – possibility of preventing scoliosis with a rehabilitation program focusing on postural m13
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia13
Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants13
Cover12
Video game exposure in children with epilepsy: EEG and clinical findings12
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing12
Editorial Board11
Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion11
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.410
Cover10
Interaction with individuals with severe motor and intellectual disabilities and nurses' positive mental well-being10
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report10
Effects of foot intrinsic muscle dynamic stretching intervention on static balance, gait parameters and gross motor ability with hemiplegic cerebral palsy: a randomized controlled pilot study10
Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders10
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus10
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency9
Finger movement functions remain in the ipsilesional hemisphere and compensation by the contralesional hemisphere might not be expected after hemispherotomy -pre- and post-hemispherotomy evaluations i9
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region9
Contents9
Announcements8
A novel splice site CUL3 variant in a patient with neurodevelopmental delay8
Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants8
Cover8
Contents8
Cover8
Cover8
Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements7
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen7
Cover7
Cover7
Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia7
Clinical features and prognostic factors of group B Streptococcus Meningitis in infants7
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C7
Contents7
Cover7
Reply to the letter regarding the article “the impact of intraventricular hemorrhage on brainstem auditory function in preterm babies”7
Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy7
Contents7
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality7
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis6
Contents6
Integrating optical and behavioral measures in fNIRS visual search studies6
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation6
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome6
The most severe form of LMNA-associated congenital muscular dystrophy6
Contents6
Contents6
Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience6
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study6
Contents6
Characteristics of ADHD subtypes in Japanese children and the association with obesity based on BMI-SD score6
Japanese guidelines for treatment of pediatric status epilepticus – 20236
Efficacy and safety of buccal midazolam for seizures outside the hospital: Real-world clinical experience6
A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy6
Cover6
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families6
Transcutaneous auricular vagus nerve stimulation therapy in patients with cognitively preserved structural focal epilepsy: A case series report6
Contents6
Pediatric anti-neutral glycosphingolipid antibodies-positive encephalomyeloradiculoneuropathy presenting with prominent brain demyelination5
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome5
Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy5
Longitudinal study for the early detection of autism in children with very preterm birth5
Characterizing visual processing deficits in cerebral adrenoleukodystrophy5
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus5
Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy5
Levetiracetam for pediatric migraine prophylaxis: A narrative review5
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO5
Effects of therapeutic instrumental music performance on upper limb motor function of children with cerebral palsy: A systematic review5
Effect of cannabidiol as a neuroprotective agent on neurodevelopmental impairment in rats with neonatal hypoxia5
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome5
Editorial Board5
Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital5
Current care practices for patients with Duchenne muscular dystrophy in China5
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop5
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome5
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan5
Reply to “Understanding cancer risk in severe motor and intellectual disabilities: The role of external influences”5
Reply to letter to editor “Children with migraine and tension-type headache: Do they have behavioral and emotional issues?”5
Absence seizures during sleep in childhood absence epilepsy: A sign of drug resistance?5
Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children4
Children with migraine and tension-type headache: Do they have behavioral and emotional issues?4
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants4
Announcements4
Regarding the impact of maternal dyslipidemia on infant neurodevelopment4
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion4
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes4
Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study4
Reply to the “letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’”4
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India4
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-194
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies4
Comment on “Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment”4
MR vessel wall enhancement in a pediatric focal cerebral arteriopathy4
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency4
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study4
Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy4
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis4
Reply to “Levacetylleucine a game changer for Niemann-Pick disease type-C”4
Cover4
Erratum regarding previously published articles4
Epidemiological investigation of spinal muscular atrophy in Japan4
Contents4
Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children4
Efficacy, safety, and tolerability of adjunctive perampanel in the treatment of pediatric patients aged 4–18 years with epilepsy: A single-center, retrospective, observational real-world study4
Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy4
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 20204
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report4
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms4
Increased cytokines/chemokines and hyponatremia as a possible cause of clinically mild encephalitis/encephalopathy with a reversible splenial lesion associated with acute focal bacterial nephritis4
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey4
A female case of L1 syndrome that may have developed due to skewed X inactivation4
Reply to: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis”4
Contents4
Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics4
Alleviating stress and perceived stigma in parents after febrile seizure in their children4
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function3
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series3
A patient presenting with chapeau de gendarme and three phase-ictal EEG pattern: Suggesting a focus in the interhemispheric fissure3
Reply to the letter “Regarding investigation of prognostic factors for HHV 6/7-associated acute encephalopathy”3
Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis3
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent review3
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes3
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients3
Paroxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT)3
Repeated neonatal Needle-pricking stimulation alter neurodevelopment in adolescent rats3
Febrile seizure in children with COVID-19 during the Omicron variant-predominant era: A single-center study3
Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years3
Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion3
Contents3
Cover3
Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care3
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India3
Cover3
Editorial Board3
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL13
A dilemma in pediatric migraine: Headache or school performance? – A comparison of topiramate and flunarizine3
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation2
Improvement in a post-stroke pediatric patient with hemiplegia: Use of a hand-arm bimanual intensive therapy with hybrid assistive limb2
Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder2
Epileptic foci and networks in children with epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion2
Dr. Michael V. Johnston2
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy2
Myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis with super-refractory status epilepticus2
Tryptophan metabolism in children with migraine: The role of kynurenine pathway2
Cranial shapes of Japanese preterm infants at one month of age using a three-dimensional scanner2
Convergent validity of the developmental coordination disorder checklist using soft neurological signs2
Genetic analysis of leukodystrophies in children: towards improved diagnostic yield2
The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome2
Contents2
Weak impacts of neuropsychological measures on symptoms of attention deficit hyperactivity disorder in university students2
Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models2
Response to the letter: “AESD and vitamin therapy: The need for biomarkers and follow-up”2
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A2
Contents2
When details matter: Critical considerations in the study of meningitis2
Post-COVID-19 trends in pediatric meningitis in the PICU: A multicenter study2
A screening method for visual attention disabilities in cerebral palsy with periventricular leukomalacia2
Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study2
Contents2
Fosphenytoin dosing regimen including optimal timing for the measurement of serum phenytoin concentration in pediatric patients2
Reply to “Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care”2
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene2
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function2
Reply to: “Acute encephalopathy with biphasic seizures: Is cerebrospinal fluid glutamate truly specific?”2
A case of acute encephalopathy with hyperperfusion detected by arterial spin labelling: Extending spectrum of acute encephalopathy with biphasic seizures and late reduced diffusion2
Professor Verne S. Caviness2
Cover2
Boys with attention-deficit/hyperactivity disorder perform wider and fewer finger tapping than typically developing boys – Peer comparisons and the effects of methylphenidate from an exploratory persp2
Contents2
Editorial Board2
Structural brain alterations in persistent developmental stuttering: a whole-brain voxel-based morphometry (VBM) analysis of grey and white matter2
Functional status of brainstem auditory pathway in babies born below 30 week gestation with necrotizing enterocolitis2
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis2
Editorial Board2
Serum matrix metallopeptidase-9 levels in patients with infantile epileptic spasms syndrome before and after the initiation of vigabatrin therapy2
Small for gestational age as a predictor of developmental coordination disorders: Exploring early risk from Japan birth cohort consortium2
Association between small for gestational age and motor coordination difficulties in children aged 5–6 years: Insights from the Hokkaido Study on Environment and Children's Health2
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy2
The gaze characteristics in preterm children: The appropriate timing for an eye-tracking tool2
Understanding Cancer risk in severe motor and intellectual disabilities: The role of external influences2
Editorial Board2
Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents2
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines2
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities2
Cover2
Color density spectral array findings on continuous EEG during therapeutic hypothermia in children with acute encephalopathy2
Cover2
Announcements2
Can a familial history of migraine and motion sickness be used in the diagnosis of childhood migraine?2
Editorial Board2
Unilateral internal carotid artery absence in trisomy 182
Call for abstracts for oral and poster presentations2
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause2
Letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’2
Developmental change of prefrontal cortex activity during handwriting tasks in children and adults2
Hypotheses of pathophysiological mechanisms in epileptic encephalopathies: A review2
Cancers in an aging population with severe motor and intellectual disabilities: a single-center retrospective cohort study2
Cover2
Polymicrogyria in a child with KCNMA1-related channelopathy1
NeuroPAIN app: Usefulness of a mobile pain application evaluation system for children with cerebral palsy1
New Year’s Greetings1
Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances1
Reply: Amnestic aphasia in MELAS can be epileptogenic1
Corrigendum to: “Detailed clinical course of fatal acute encephalopathy in children” [Brain Dev. 41(8) (2019) 691–698]1
Chaperone therapy for lysosomal and non-lysosomal protein misfolding diseases1
Valproate and lamotrigine combination therapy in children with drug-resistant focal epilepsy: an observational analysis focusing on neuroimaging abnormalities1
JSCN Best Paper Awards1
Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report1
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN1
Improving pediatric magnetic resonance imaging safety by enhanced non-technical skills and team collaboration1
Contents1
Introduction of the new Editor-in-Chief of Brain & Development1
Neuropsychiatric manifestations associated with Juvenile Systemic Lupus Erythematosus: An overview focusing on early diagnosis1
Unraveling the connections between migraine and psychiatric comorbidities: A narrative review1
Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy1
Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy1
Safety and feasibility of autologous cord blood infusion for improving motor function in young children with cerebral palsy in Japan: A single-center study1
Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia1
Editorial Board1
Immune dysregulation in new-onset refractory status epilepticus (NORSE): current insights and therapeutic perspectives1
Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants1
The Japanese version of the children’s sleep habits questionnaire (CSHQ-J): A validation study and influencing factors1
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome1
Reply to letter to the editor “Regarding nusinersen and other therapeutic strategies for improved motor function”1
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy1
Regulatory mechanism of LncRNA GAS5 in cognitive dysfunction induced by sevoflurane anesthesia in neonatal rats1
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach1
Delayed episodic memory recall after one week is associated with executive functions and divided attention in pediatric epilepsy patients1
Exploration of urine metabolic biomarkers for new-onset, untreated pediatric epilepsy: A gas and liquid chromatography mass spectrometry-based metabolomics study1
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report1
Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey1
Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report1
EEG microstate-based static and dynamic brain functional network differences in autism spectrum disorder children and tDCS interventional modulation1
Reply to “Integrating optical and behavioral measures in fNIRS visual search”1
Increase in children with developmental delay: Survey on 18-month-old children in Togane city, Japan1
Contents1
Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey1
Acknowledgments to Anonymous Reviewers in 20211
Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study1
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 31
0.089522838592529