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 2021-12-01 to 2025-12-01.)

Article	Citations
Associations between cerebrospinal fluid pressure levels, clinical features, and MRI abnormalities in pediatric idiopathic intracranial hypertension: A retrospective study	27
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy	24
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	20
New Year’s greetings	19
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study	18
Acknowledgments to Anonymous Reviewers in 2023	17
Current state of hemispherectomy and callosotomy for pediatric refractory epilepsy in Denmark	17
Association of O blood type with the prognosis of acute necrotizing encephalopathy in childhood: A single-center cohort study	16
Potential of arterial spin labeling in elucidating the pathogenesis of the splenium of the corpus callosum and cerebellar dentate nucleus in encephalopathy	14
Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants	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
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia	13
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing	12
Cover	12
Video game exposure in children with epilepsy: EEG and clinical findings	12
Editorial Board	11
Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion	11
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus	10
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4	10
Cover	10
Interaction with individuals with severe motor and intellectual disabilities and nurses' positive mental well-being	10
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report	10
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	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

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	9
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region	9
Contents	9
Cover	8
Announcements	8
A novel splice site CUL3 variant in a patient with neurodevelopmental delay	8
Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants	8
Cover	8
Contents	8
Cover	8
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 epilepsy	7
Contents	7
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality	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
Cover	7
Cover	7
Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia	7
Clinical features and prognostic factors of group B Streptococcus Meningitis in infants	7
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C	7
Contents	7
Cover	7
Transcutaneous auricular vagus nerve stimulation therapy in patients with cognitively preserved structural focal epilepsy: A case series report	6
Contents	6
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis	6
Contents	6
Integrating optical and behavioral measures in fNIRS visual search studies	6
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation	6
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome	6
The most severe form of LMNA-associated congenital muscular dystrophy	6
Contents	6
Contents	6
Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience	6
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study	6
Contents	6
Characteristics of ADHD subtypes in Japanese children and the association with obesity based on BMI-SD score	6
Japanese guidelines for treatment of pediatric status epilepticus – 2023	6
Efficacy and safety of buccal midazolam for seizures outside the hospital: Real-world clinical experience	6
A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy	6
Cover	6
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families	6
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome	5
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan	5
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
Pediatric anti-neutral glycosphingolipid antibodies-positive encephalomyeloradiculoneuropathy presenting with prominent brain demyelination	5
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome	5

Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy	5
Longitudinal study for the early detection of autism in children with very preterm birth	5
Characterizing visual processing deficits in cerebral adrenoleukodystrophy	5
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus	5
Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy	5
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO	5
Effects of therapeutic instrumental music performance on upper limb motor function of children with cerebral palsy: A systematic review	5
Effect of cannabidiol as a neuroprotective agent on neurodevelopmental impairment in rats with neonatal hypoxia	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
Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital	5
Current care practices for patients with Duchenne muscular dystrophy in China	5
Levetiracetam for pediatric migraine prophylaxis: A narrative review	5
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop	5
Epidemiological investigation of spinal muscular atrophy in Japan	4
Contents	4
Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children	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
Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy	4
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020	4
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report	4
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms	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
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey	4
A female case of L1 syndrome that may have developed due to skewed X inactivation	4
Reply to: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis”	4
Contents	4
Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics	4
Alleviating stress and perceived stigma in parents after febrile seizure in their children	4
Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children	4
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 infants	4
Announcements	4
Regarding the impact of maternal dyslipidemia on infant neurodevelopment	4
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion	4
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes	4
Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study	4
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 India	4
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19	4
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies	4
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 arteriopathy	4
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency	4
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study	4
Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy	4
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis	4
Reply to “Levacetylleucine a game changer for Niemann-Pick disease type-C”	4
Cover	4
Erratum regarding previously published articles	4
Febrile seizure in children with COVID-19 during the Omicron variant-predominant era: A single-center study	3
Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years	3
Risk factors for post-encephalopathic epilepsy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion	3
Contents	3
Cover	3
Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care	3
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India	3
Cover	3
Editorial Board	3
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	3
A dilemma in pediatric migraine: Headache or school performance? – A comparison of topiramate and flunarizine	3
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function	3
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series	3
A patient presenting with chapeau de gendarme and three phase-ictal EEG pattern: Suggesting a focus in the interhemispheric fissure	3
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 dialysis	3
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent review	3
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes	3
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients	3
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 rats	3