OOIR: Observatory of International Research

Papers

(The TQCC of Brain & Development is 4. 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 2020-11-01 to 2024-11-01.)

Article	Citations
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood	81
Epilepsy in Angelman syndrome: A scoping review	44
Reversible splenial lesion syndrome associated with SARS-CoV-2 infection in two children	38
Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)	35
Fine and gross motor skills predict later psychosocial maladaptation and academic achievement	26
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene	22
PNPT1 mutations may cause Aicardi-Goutières-Syndrome	22
Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate	18
Clinical characteristics of KCNQ2 encephalopathy	18
Proteomic analysis reveals plasma haptoglobin, interferon-γ, and interleukin-1β as potential biomarkers of pediatric refractory epilepsy	16
Phenotypes of SMA patients retaining SMN1 with intragenic mutation	16
The effect of different dietary structure on gastrointestinal dysfunction in children with cerebral palsy and epilepsy based on gut microbiota	16
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings	16
Juvenile myoclonic epilepsy: Long-term prognosis and risk factors	16
Cannabidiol-enriched oil in children and adults with treatment-resistant epilepsy-does tolerance exist?	15
Epidemiological investigation of spinal muscular atrophy in Japan	15
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants	15
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	14
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay	14
Risk factors of malnutrition in children with severe motor and intellectual disabilities	14
Movement disorders in children with congenital Zika virus syndrome	14
Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study	13
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency	13
Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy	13
Chaperone therapy for molecular pathology in lysosomal diseases	12

Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	12
High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency	11
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan	11
Circulating markers of oxidative stress are associated with a muscle injury in patients with muscular dystrophy Duchenne	10
A nation-wide survey of Japanese pediatric MOG antibody-associated diseases	10
Long-term hearing and neurodevelopmental outcomes following Kawasaki disease: A population-based cohort study	10
Two cases of DYNC1H1 mutations with intractable epilepsy	10
Early therapeutic plasma exchange may lead to complete neurological recovery in moderate to severe influenza-associated acute necrotizing encephalopathy	10
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants	10
Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis	10
Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years	10
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder	9
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation	9
Clinical utility of the FilmArray meningitis/encephalitis panel in children at a tertiary center in South Korea	9
Pediatric headache: Are the red flags misleading or prognostic?	9
Malaysian outcome of acute necrotising encephalopathy of childhood	9
Flurothyl-induced seizure paradigm revealed higher seizure susceptibility in middle-aged Angelman syndrome mouse model	9
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life	9
A retrospective analysis of memantine use in a pediatric neurology clinic	9
A nationwide survey of bilirubin encephalopathy in preterm infants in Japan	9
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction	8
HPeV3-associated acute encephalitis/encephalopathy among Japanese infants	8
Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings	8
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder	8
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency	8
A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms	7
Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome	7
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients	7
Clinical variations of epileptic syndrome associated with PACS2 variant	7
Clinical experience on the use of perampanel in epilepsy among child neurologists in the Philippines	7
Cranial shapes of Japanese preterm infants at one month of age using a three-dimensional scanner	7
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia	7
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression	7
Polymicrogyria in a child with KCNMA1-related channelopathy	7
GNAO1 mutation-related severe involuntary movements treated with gabapentin	7
Transient structural MRI patterns correlate with the motor functions in preterm infants	7
Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders	7
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy	7
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype	7
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD	7
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	7
Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis	6
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report	6
Prognostic factors for relapse and outcome in pediatric acute transverse myelitis	6
Personality, emotional and cognitive functions in young adults born preterm	6
The diagnostic values of red flags in pediatric patients with headache	6
Early non-convulsive seizures are associated with the development of acute encephalopathy with biphasic seizures and late reduced diffusion	6
The Japanese version of the children’s sleep habits questionnaire (CSHQ-J): A validation study and influencing factors	6
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability	6
First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature	6

Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis	6
Fetal alcohol syndrome and the risk of neurodevelopmental disorders: A longitudinal cohort study	6
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report	6
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1	6
Myoclonic super-refractory status epilepticus with favourable evolution in a teenager with FIRES: Is the association of vagus nerve stimulation and cannabidiol effective?	6
Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study	6
Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes	6
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation	6
Relationship between trunk muscle strength, reaching ability and balance in children with Down syndrome – A cross-sectional study	6
Breastfeeding and risk of febrile seizures in the first 3 years of life: The Japan Environment and Children’s Study	6
Vitamins K and D deficiency in severe motor and intellectually disabled patients	6
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy	6
Emotional and behavioral problems in pediatric patients with migraine and tension-type headache	6
Vitamin D and Nerve Conduction In Pediatric Type-1 Diabetes Mellitus	6
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis	5
Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy	5
First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing	5
A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome	5
Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study	5
A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation	5
Linear cortical cystic lesions: Characteristic MR findings in MELAS patients	5
Safety and feasibility of autologous cord blood infusion for improving motor function in young children with cerebral palsy in Japan: A single-center study	5
A study on the relationship between non-epileptic fast (40 – 200 Hz) oscillations in scalp EEG and development in children	5
Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2	5
Neurochemistry of hyponatremic encephalopathy evaluated by MR spectroscopy	5
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency	5
A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep	5
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India	5
Neurovisual profile in children affected by Angelman syndrome	5
Low threshold to Vestibular and Oral Sensory stimuli might affect quality of sleep among children with autism spectrum disorder	5
Efficacy, tolerability and safety of perampanel in children and adolescents with epilepsy: Systematic review and meta-analysis	5
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen	5
Abnormal cortical responses elicited by audiovisual movies in patients with autism spectrum disorder with atypical sensory behavior: A magnetoencephalographic study	5
A longitudinal cohort study of childhood MMR vaccination and seizure disorder among American children	5
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy	5
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study-	5
Children suspected of having intracranial infection with normal brain magnetic resonance imaging may be associated with the myelin oligodendrocyte glycoprotein antibody	5
Arterial spin labeling perfusion imaging in an infant with anti-N-methyl-D-aspartate receptor encephalitis: A case report	4
Status dystonicus associated with CLN8 disease	4
Perinatal lethal Gaucher disease: A case report and review of literature	4
Prediction of AESD and neurological sequelae in febrile status epilepticus	4
Creatinine-to-cystatin C ratio estimates muscle mass correlating the markers of the patients with severe motor and intellectual disabilities	4
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis	4
A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome	4
Dominant SCN2A mutation with variable phenotype in two generations	4
Chaperone therapy for lysosomal and non-lysosomal protein misfolding diseases	4
Two cases of persistent falcine and occipital sinuses	4
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation	4
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy	4
Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification	4
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation	4
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation	4
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders	4
Progressive cerebral atrophies in three children with COL4A1 mutations	4
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants	4
Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy	4
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN	4
A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure	4
A rare infective cause of stroke in an immunocompetent child	4
Body temperature predicts recurrent febrile seizures in the same febrile illness	4
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum	4
Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus	4
Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions	4
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome	4
Thyroid crisis mimicking clinically mild encephalitis/encephalopathy with a reversible splenial lesion: A pediatric case report	4
Clinical value of therapeutic drug monitoring for levetiracetam in pediatric patients with epilepsy	4
Refractory cerebral infarction in a child with an ACTA2 mutation	4
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3	4
Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms	4
Delayed episodic memory recall after one week is associated with executive functions and divided attention in pediatric epilepsy patients	4
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines	4