OOIR: Observatory of International Research

Papers

(The TQCC of Brain & Development is 3. 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.)

Article	Citations
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy	27
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy	23
Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy	23
New Year’s greetings	20
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study	19
Current state of hemispherectomy and callosotomy for pediatric refractory epilepsy in Denmark	17
Acknowledgments to Anonymous Reviewers in 2023	17
Association of O blood type with the prognosis of acute necrotizing encephalopathy in childhood: A single-center cohort study	16
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study	16
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia	13
Potential of arterial spin labeling in elucidating the pathogenesis of the splenium of the corpus callosum and cerebellar dentate nucleus in encephalopathy	13
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 m	13
Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion	12
Video game exposure in children with epilepsy: EEG and clinical findings	12
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing	12
Cover	12
Editorial Board	11
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report	11
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus	11
Cover	10
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 disorders	10
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region	10
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4	10
Contents	9
Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement	9

Clinical features and prognostic factors of group B Streptococcus Meningitis in infants	9
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 study	9
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency	9
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 i	8
Cover	8
Cover	8
Contents	8
Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy	8
Announcements	8
Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants	8
A novel splice site CUL3 variant in a patient with neurodevelopmental delay	8
Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia	7
Cover	7
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality	7
Efficacy and safety of buccal midazolam for seizures outside the hospital: Real-world clinical experience	7
Contents	7
Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements	7
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen	7
Contents	7
Contents	7
Japanese guidelines for treatment of pediatric status epilepticus – 2023	7
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C	7
Cover	7
Cover	7
Contents	7
Integrating optical and behavioral measures in fNIRS visual search studies	7
Cover	7
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis	6
A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy	6
Cover	6
Contents	6
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome	6
Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy	6
Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience	6
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO	6
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation	6
Pediatric anti-neutral glycosphingolipid antibodies-positive encephalomyeloradiculoneuropathy presenting with prominent brain demyelination	6
The most severe form of LMNA-associated congenital muscular dystrophy	6
Transcutaneous auricular vagus nerve stimulation therapy in patients with cognitively preserved structural focal epilepsy: A case series report	6
Contents	6
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop	6
Contents	6
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families	6
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study	6
Levetiracetam for pediatric migraine prophylaxis: A narrative review	5
Paroxysmal sympathetic hyperactivity and the later development of epilepsy in a chemotherapy-associated brain damage	5
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus	5
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 hypoxia	5
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan	5

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 articles	5
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome	5
Editorial Board	5
Characterizing visual processing deficits in cerebral adrenoleukodystrophy	5
Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy	5
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome	5
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 China	5
A female case of L1 syndrome that may have developed due to skewed X inactivation	5
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey	5
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 birth	5
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome	5
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India	4
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19	4
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study	4
Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children	4
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion	4
Contents	4
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes	4
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis	4
Cover	4
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 India	4
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020	4
Editorial Board	4
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies	4
Reply to the letter “Regarding investigation of prognostic factors for HHV 6/7-associated acute encephalopathy”	4
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 study	4
Contents	4
Alleviating stress and perceived stigma in parents after febrile seizure in their children	4
Children with migraine and tension-type headache: Do they have behavioral and emotional issues?	4
Epidemiological investigation of spinal muscular atrophy in Japan	4
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report	4
Increased cytokines/chemokines and hyponatremia as a possible cause of clinically mild encephalitis/encephalopathy with a reversible splenial lesion associated with acute focal bacterial nephritis	4
Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study	4
Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy	4
Announcements	4
Febrile seizure in children with COVID-19 during the Omicron variant-predominant era: A single-center study	4
Repeated neonatal Needle-pricking stimulation alter neurodevelopment in adolescent rats	4
Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children	4
MR vessel wall enhancement in a pediatric focal cerebral arteriopathy	4
Combined medical therapy and neurosurgical revascularization preventing stroke in post-varicella angiopathy: Case report and review of literature	4
Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy	4
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency	4
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes	4
Regarding the impact of maternal dyslipidemia on infant neurodevelopment	4
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants	4
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms	4
Cover	4
Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis	4
Cover	4
Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion	3
A dilemma in pediatric migraine: Headache or school performance? – A comparison of topiramate and flunarizine	3
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	3
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients	3
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy	3
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 limb	3
A screening method for visual attention disabilities in cerebral palsy with periventricular leukomalacia	3
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines	3
Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years	3
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 function	3
Cover	3
Cover	3
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A	3
Epileptic foci and networks in children with epilepsy after acute encephalopathy with biphasic seizures and late reduced diffusion	3
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 Health	3
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function	3
Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care	3
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series	3
Contents	3
A retrospective analysis of memantine use in a pediatric neurology clinic	3
The gaze characteristics in preterm children: The appropriate timing for an eye-tracking tool	3
When details matter: Critical considerations in the study of meningitis	3