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 2021-11-01 to 2025-11-01.)
ArticleCitations
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy27
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 dystrophinopathy23
New Year’s greetings20
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study19
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
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study16
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia13
Potential of arterial spin labeling in elucidating the pathogenesis of the splenium of the corpus callosum and cerebellar dentate nucleus in encephalopathy13
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
Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion12
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
Cover12
Editorial Board11
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report11
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus11
Cover10
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
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region10
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.410
Contents9
Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement9
Clinical features and prognostic factors of group B Streptococcus Meningitis in infants9
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 study9
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 i8
Cover8
Cover8
Contents8
Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy8
Announcements8
Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants8
A novel splice site CUL3 variant in a patient with neurodevelopmental delay8
Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia7
Cover7
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality7
Efficacy and safety of buccal midazolam for seizures outside the hospital: Real-world clinical experience7
Contents7
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
Contents7
Contents7
Japanese guidelines for treatment of pediatric status epilepticus – 20237
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C7
Cover7
Cover7
Contents7
Integrating optical and behavioral measures in fNIRS visual search studies7
Cover7
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis6
A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy6
Cover6
Contents6
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome6
Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy6
Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience6
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO6
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation6
Pediatric anti-neutral glycosphingolipid antibodies-positive encephalomyeloradiculoneuropathy presenting with prominent brain demyelination6
The most severe form of LMNA-associated congenital muscular dystrophy6
Transcutaneous auricular vagus nerve stimulation therapy in patients with cognitively preserved structural focal epilepsy: A case series report6
Contents6
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop6
Contents6
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families6
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study6
Levetiracetam for pediatric migraine prophylaxis: A narrative review5
Paroxysmal sympathetic hyperactivity and the later development of epilepsy in a chemotherapy-associated brain damage5
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus5
Absence seizures during sleep in childhood absence epilepsy: A sign of drug resistance?5
Effect of cannabidiol as a neuroprotective agent on neurodevelopmental impairment in rats with neonatal hypoxia5
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan5
Reply to the “letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’”5
Erratum regarding previously published articles5
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
Characterizing visual processing deficits in cerebral adrenoleukodystrophy5
Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy5
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome5
Reply to: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis”5
Current care practices for patients with Duchenne muscular dystrophy in China5
A female case of L1 syndrome that may have developed due to skewed X inactivation5
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey5
Reply to letter to editor “Children with migraine and tension-type headache: Do they have behavioral and emotional issues?”5
Longitudinal study for the early detection of autism in children with very preterm birth5
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome5
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India4
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study4
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-194
Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children4
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion4
Contents4
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes4
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis4
Cover4
Reply to “Levacetylleucine a game changer for Niemann-Pick disease type-C”4
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India4
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 20204
Editorial Board4
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies4
Reply to the letter “Regarding investigation of prognostic factors for HHV 6/7-associated acute encephalopathy”4
Contents4
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
Alleviating stress and perceived stigma in parents after febrile seizure in their children4
Children with migraine and tension-type headache: Do they have behavioral and emotional issues?4
Epidemiological investigation of spinal muscular atrophy in Japan4
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report4
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
Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study4
Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy4
Announcements4
Febrile seizure in children with COVID-19 during the Omicron variant-predominant era: A single-center study4
Repeated neonatal Needle-pricking stimulation alter neurodevelopment in adolescent rats4
Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children4
Combined medical therapy and neurosurgical revascularization preventing stroke in post-varicella angiopathy: Case report and review of literature4
MR vessel wall enhancement in a pediatric focal cerebral arteriopathy4
Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy4
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency4
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes4
Regarding the impact of maternal dyslipidemia on infant neurodevelopment4
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants4
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms4
Cover4
Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis4
Cover4
Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion3
A dilemma in pediatric migraine: Headache or school performance? – A comparison of topiramate and flunarizine3
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL13
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients3
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy3
Reply to “Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care”3
Improvement in a post-stroke pediatric patient with hemiplegia: Use of a hand-arm bimanual intensive therapy with hybrid assistive limb3
A screening method for visual attention disabilities in cerebral palsy with periventricular leukomalacia3
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines3
Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years3
Paroxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT)3
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function3
Cover3
Cover3
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A3
Epileptic foci and networks in children with epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion3
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 Health3
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function3
Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care3
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series3
Contents3
A retrospective analysis of memantine use in a pediatric neurology clinic3
The gaze characteristics in preterm children: The appropriate timing for an eye-tracking tool3
When details matter: Critical considerations in the study of meningitis3
Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents2
Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder2
Dr. Michael V. Johnston2
Post-COVID-19 trends in pediatric meningitis in the PICU: A multicenter study2
Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models2
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy2
Developmental change of prefrontal cortex activity during handwriting tasks in children and adults2
Editorial Board2
Can a familial history of migraine and motion sickness be used in the diagnosis of childhood migraine?2
Editorial Board2
Call for abstracts for oral and poster presentations2
Intellectual disability and autistic behavior and their modifying factors in children with tuberous sclerosis complex2
Announcements2
Cranial shapes of Japanese preterm infants at one month of age using a three-dimensional scanner2
Unpacking the genetic landscape of epilepsy: key considerations for future research and clinical translation2
A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay2
Fosphenytoin dosing regimen including optimal timing for the measurement of serum phenytoin concentration in pediatric patients2
Functional status of brainstem auditory pathway in babies born below 30 week gestation with necrotizing enterocolitis2
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities2
MiR-497/PLD regulation contributes to cognitive dysfunction in neonatal rats after repeated sevoflurane exposure2
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis2
Diagnostic value of serum miRNA-134-3p and miRNA-155-5p for monitoring seizure control in pediatric epilepsy2
Serum matrix metallopeptidase-9 levels in patients with infantile epileptic spasms syndrome before and after the initiation of vigabatrin therapy2
Understanding Cancer risk in severe motor and intellectual disabilities: The role of external influences2
Hypotheses of pathophysiological mechanisms in epileptic encephalopathies: A review2
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
Genetic analysis of leukodystrophies in children: towards improved diagnostic yield2
Contents2
Cover2
Cover2
L-NAME improves the morphology and necrosis of skeletal muscle by activating PINK1-PARKIN mediated mitophagy in mdx mice2
A female patient with adolescent-onset progressive myoclonus epilepsy carrying a truncating MECP2 mutation2
Fetal alcohol syndrome and the risk of neurodevelopmental disorders: A longitudinal cohort study2
Professor Verne S. Caviness2
Myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis with super-refractory status epilepticus2
Unilateral internal carotid artery absence in trisomy 182
Cover2
Ankle contractures and functional motor decline in Duchenne muscular dystrophy2
A case of acute encephalopathy with hyperperfusion detected by arterial spin labelling: Extending spectrum of acute encephalopathy with biphasic seizures and late reduced diffusion2
Editorial Board2
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
Small for gestational age as a predictor of developmental coordination disorders: Exploring early risk from Japan birth cohort consortium2
The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome2
Cancers in an aging population with severe motor and intellectual disabilities: a single-center retrospective cohort study2
Contents2
Contents2
Tryptophan metabolism in children with migraine: The role of kynurenine pathway2
Contents2
Convergent validity of the developmental coordination disorder checklist using soft neurological signs2
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report2
Color density spectral array findings on continuous EEG during therapeutic hypothermia in children with acute encephalopathy2
Letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’2
Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus2
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review2
Editorial Board2
Weak impacts of neuropsychological measures on symptoms of attention deficit hyperactivity disorder in university students2
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene2
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause2
Sex interaction of white matter microstructure and verbal IQ in corpus callosum in typically developing children and adolescents1
Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 121
Parent-child interaction therapy as a therapeutic approach for children with autism spectrum disorder in Japan1
Delayed episodic memory recall after one week is associated with executive functions and divided attention in pediatric epilepsy patients1
Editorial Board1
Duchenne muscular dystrophy: Evolving therapeutic strategies and multidimensional evaluation approaches1
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach1
Cover1
The Japanese version of the children’s sleep habits questionnaire (CSHQ-J): A validation study and influencing factors1
Unraveling the connections between migraine and psychiatric comorbidities: A narrative review1
Regulatory mechanism of LncRNA GAS5 in cognitive dysfunction induced by sevoflurane anesthesia in neonatal rats1
Introduction of the new Editor-in-Chief of Brain & Development1
Contents1
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy1
Efficacy and safety of risperidone and aripiprazole in reducing severity of irritability in children with autism spectrum disorder: A randomized controlled trial1
Contents1
Japanese pediatric neurologist's decision regarding genetic testing for patients with developmental delay/intellectual disability: A nationwide survey1
Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey1
Valproate and lamotrigine combination therapy in children with drug-resistant focal epilepsy: an observational analysis focusing on neuroimaging abnormalities1
Spinal Tuina ameliorates cerebral palsy-associated neural impairment in hypoxia-ischemia model rats via BMSC-derived exosomal microRNAs1
Reply to “Integrating optical and behavioral measures in fNIRS visual search”1
Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances1
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 31
Involuntary movements as a prognostic factor for acute encephalopathy with biphasic seizures and late reduced diffusion1
JSCN Best Paper Awards1
Polymicrogyria in a child with KCNMA1-related channelopathy1
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN1
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome1
Improving pediatric magnetic resonance imaging safety by enhanced non-technical skills and team collaboration1
Increase in children with developmental delay: Survey on 18-month-old children in Togane city, Japan1
Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants1
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
Gene therapy for Duchenne muscular dystrophy1
Immune dysregulation in new-onset refractory status epilepticus (NORSE): current insights and therapeutic perspectives1
Reply to letter to the editor “Regarding nusinersen and other therapeutic strategies for improved motor function”1
Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study1
Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia1
Acknowledgments to Anonymous Reviewers in 20211
A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis1
0.22961592674255