Brain & Development

Article	Citations
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood	69
Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017	44
Reversible splenial lesion syndrome associated with SARS-CoV-2 infection in two children	37
Bell’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)	35
Epilepsy in Angelman syndrome: A scoping review	33
Sensory hypersensitivity in Tourette syndrome: A review	33
Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy	27
Executive dysfunction in medication-naïve children with ADHD: A multi-modal fNIRS and EEG study	23
Fine and gross motor skills predict later psychosocial maladaptation and academic achievement	22
PNPT1 mutations may cause Aicardi-Goutières-Syndrome	20
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene	18
Clinical characteristics of KCNQ2 encephalopathy	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
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy	14
The effect of different dietary structure on gastrointestinal dysfunction in children with cerebral palsy and epilepsy based on gut microbiota	14
Valine-restricted diet for patients with ECHS1 deficiency: Divergent clinical outcomes in two Japanese siblings	14
Risk factors of malnutrition in children with severe motor and intellectual disabilities	13
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants	13
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	13
Phenotypes of SMA patients retaining SMN1 with intragenic mutation	13
Chaperone therapy for molecular pathology in lysosomal diseases	13
Movement disorders in children with congenital Zika virus syndrome	13
Epidemiological investigation of spinal muscular atrophy in Japan	13
Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate	13

Robot-assisted gait training using a very small-sized Hybrid Assistive Limb® for pediatric cerebral palsy: A case report	13
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay	12
Effectiveness of low-dose riboflavin as a prophylactic agent in pediatric migraine	12
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan	11
Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency	11
Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy	10
Short-term clinical outcomes of onasemnogene abeparvovec treatment for spinal muscular atrophy	10
Perampanel for nonepileptic myoclonus in Angelman syndrome	10
A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants	10
Two cases of DYNC1H1 mutations with intractable epilepsy	9
Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis	9
Long-term hearing and neurodevelopmental outcomes following Kawasaki disease: A population-based cohort study	9
Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study	9
Proteomic analysis reveals plasma haptoglobin, interferon-γ, and interleukin-1β as potential biomarkers of pediatric refractory epilepsy	9
A nationwide survey of bilirubin encephalopathy in preterm infants in Japan	9
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG	9
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation	9
Malaysian outcome of acute necrotising encephalopathy of childhood	9
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	9
Longitudinal correspondence of epilepsy and scalp EEG fast (40–200 Hz) oscillations in pediatric patients with tuberous sclerosis complex	8
Flurothyl-induced seizure paradigm revealed higher seizure susceptibility in middle-aged Angelman syndrome mouse model	8
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	8
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder	8
Clinical utility of the FilmArray meningitis/encephalitis panel in children at a tertiary center in South Korea	8
Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan	8
Circulating markers of oxidative stress are associated with a muscle injury in patients with muscular dystrophy Duchenne	8
High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency	8
Efficacy and safety of intravenous thiamylal in pediatric procedural sedation for magnetic resonance imaging	8
Pediatric headache: Are the red flags misleading or prognostic?	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
Early therapeutic plasma exchange may lead to complete neurological recovery in moderate to severe influenza-associated acute necrotizing encephalopathy	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
Somatic mutations involving TSC 1 and TSC2 genes in two children with focal cortical dysplasia	7
A retrospective analysis of memantine use in a pediatric neurology clinic	7
A nation-wide survey of Japanese pediatric MOG antibody-associated diseases	7
Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome	7
Transient structural MRI patterns correlate with the motor functions in preterm infants	7
Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life	7
Polymicrogyria in a child with KCNMA1-related channelopathy	7
Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome	7
Efficacy of hypothermia therapy in patients with acute encephalopathy with biphasic seizures and late reduced diffusion	7
Clinical findings in patients with febrile seizure after 5 years of age: A retrospective study	7
Lacosamide for children with paroxysmal kinesigenic dyskinesia	7
Novel variants in aromatic L-amino acid decarboxylase deficiency: Case report of sisters with mild phenotype	6
The eldest case of MICPCH with CASK mutation exhibiting gross motor regression	6
Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction	6
Early non-convulsive seizures are associated with the development of acute encephalopathy with biphasic seizures and late reduced diffusion	6
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency	6
Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome	6

Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder	6
First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature	6
Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients	6
Mitochondrial carbonic anhydrase VA deficiency in three Indian infants manifesting early metabolic crisis	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
Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy	6
A case of CHOPS syndrome accompanied with moyamoya disease and systemic vasculopathy	6
Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis	6
Vitamin D and Nerve Conduction In Pediatric Type-1 Diabetes Mellitus	6
Breastfeeding and risk of febrile seizures in the first 3 years of life: The Japan Environment and Children’s Study	6
GNAO1 mutation-related severe involuntary movements treated with gabapentin	6
Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1	6
Neuroimaging manifestations and genetic heterogeneity of Walker-Warburg syndrome in Saudi patients	6
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay	5
Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy	5
13q13.3 microdeletion associated with apparently balanced translocation of 46,XX,t(7;13) suggests NBEA involvement	5
A case of focal cortical dysplasia type IIa with pathologically suspected bilateral Rasmussen syndrome	5
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report	5
HPeV3-associated acute encephalitis/encephalopathy among Japanese infants	5
Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability	5
Children suspected of having intracranial infection with normal brain magnetic resonance imaging may be associated with the myelin oligodendrocyte glycoprotein antibody	5
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis	5
Acute encephalopathy with biphasic seizures and late reduced diffusion: Predictive EEG findings	5
Neurochemistry of hyponatremic encephalopathy evaluated by MR spectroscopy	5
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen	5
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency	5
A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms	5
Linear cortical cystic lesions: Characteristic MR findings in MELAS patients	5
Low threshold to Vestibular and Oral Sensory stimuli might affect quality of sleep among children with autism spectrum disorder	5
Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family	5
Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis	5
Vitamins K and D deficiency in severe motor and intellectually disabled patients	5
Prognostic factors for relapse and outcome in pediatric acute transverse myelitis	5
Personality, emotional and cognitive functions in young adults born preterm	5
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report	5
White matter abnormality in Jacobsen syndrome assessed by serial MRI	5
Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes	5
Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders	5
Mitochondrial DNA depletion syndrome with a mutation in SLC25A4 developing epileptic encephalopathy: A case report	5
Vitamin B6 in acute encephalopathy with biphasic seizures and late reduced diffusion	5
Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions	4
Fetal alcohol syndrome and the risk of neurodevelopmental disorders: A longitudinal cohort study	4
A longitudinal cohort study of childhood MMR vaccination and seizure disorder among American children	4
Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy	4
Dominant SCN2A mutation with variable phenotype in two generations	4
Quantitative assessment of fine motor skills in children using magnetic sensors	4
The diagnostic values of red flags in pediatric patients with headache	4
A short form of gross motor function measure for Fukuyama congenital muscular dystrophy	4
Improvement of epilepsy with lacosamide in a patient with ring chromosome 20 syndrome	4
Neurovisual profile in children affected by Angelman syndrome	4
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	4
Efficacy, tolerability and safety of perampanel in children and adolescents with epilepsy: Systematic review and meta-analysis	4
Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation	4
Perinatal lethal Gaucher disease: A case report and review of literature	4
The association between tic medication therapy and psychiatric comorbidities among patients with Tourette syndrome: A national population-based study in Taiwan	4
Meaningful word acquisition is associated with walking ability over 10 years in Rett syndrome	4
A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation	4
Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms	4
Coexistence of guanidinoacetate methyltransferase (GAMT) deficiency and neuroleptic malignant syndrome without creatine kinase elevation	4
Cranial shapes of Japanese preterm infants at one month of age using a three-dimensional scanner	4
The Japanese version of the children’s sleep habits questionnaire (CSHQ-J): A validation study and influencing factors	4
Refractory cerebral infarction in a child with an ACTA2 mutation	4
A study on the relationship between non-epileptic fast (40 – 200 Hz) oscillations in scalp EEG and development in children	4
Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification	4
First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing	4
Prediction of AESD and neurological sequelae in febrile status epilepticus	4
IVIG in childhood primary angiitis of the central nervous system: A case report	4
Abnormal cortical responses elicited by audiovisual movies in patients with autism spectrum disorder with atypical sensory behavior: A magnetoencephalographic study	4
Progressive cerebral atrophies in three children with COL4A1 mutations	4
Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy	4
Emotional and behavioral problems in pediatric patients with migraine and tension-type headache	4
Neurodegeneration with brain iron accumulation: Characterization of clinical, radiological, and genetic features of pediatric patients from Southern India	4
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN	4
Relationship between trunk muscle strength, reaching ability and balance in children with Down syndrome – A cross-sectional study	4
Body temperature predicts recurrent febrile seizures in the same febrile illness	4
Arterial spin labeling perfusion imaging in an infant with anti-N-methyl-D-aspartate receptor encephalitis: A case report	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
Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia	3
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation	3
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy	3

A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines	3
A pilot study of combining social skills training and parenting training for children with autism spectrum disorders and their parents in Japan	3
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province	3
Single gene, two diseases, and multiple clinical presentations: Biotin–thiamine-responsive basal ganglia disease	3
Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2	3
Thyroid crisis mimicking clinically mild encephalitis/encephalopathy with a reversible splenial lesion: A pediatric case report	3
Reliability and validity of the Japanese version of the Behavior Problem Inventory-Short Form	3
Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study	3
Two cases of persistent falcine and occipital sinuses	3
A rare infective cause of stroke in an immunocompetent child	3
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 persp	3
Virus reactivation after immunotherapy of anti-NMDAR encephalitis secondary to herpes simplex encephalitis: A case report	3
Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti	3
SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation	3
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children	3
Severe pallid breath-holding spells treated with low-dose theophylline	3
Sex interaction of white matter microstructure and verbal IQ in corpus callosum in typically developing children and adolescents	3
Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study	3
Two cases of persistent falcine and occipital sinuses	3
Incidence and risk factors of acute encephalopathy with biphasic seizures in febrile status epilepticus	3
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	3
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease	3
The first pediatric case of mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) associated with Neisseria meningitidis	3
Analysis of factors related to low health-related quality of life in children with epilepsy using a self-assessed Japanese version of the KIDSCREEN-52	3
A case of pediatric anti-leucine-rich glioma inactivated 1 encephalitis with faciobrachial dystonic seizure	3
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3	3
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis	3
Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement	3
A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders	3
Factors associated with high care burden of primary caregivers of children with medical complexity after completing a discharge-support program in a recovery center	3
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	3
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach	3
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy	3
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance	3
A six-year longitudinal study of neurocognitive problems in children with epilepsy	3
Administration of nusinersen via paramedian approach for spinal muscular atrophy	3
Clinical value of therapeutic drug monitoring for levetiracetam in pediatric patients with epilepsy	3
Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report	3
Chemotherapy-induced autoimmune-mediated encephalitis during germinoma treatment	3
Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome	3
Low-dose phenobarbital for epilepsy with myoclonic absences: A case report	3
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy	3
A case of infantile Tay-Sachs disease with late onset spasms	3
A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism	3
Safety and feasibility of autologous cord blood infusion for improving motor function in young children with cerebral palsy in Japan: A single-center study	3
Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy	3
Early maladaptive schemas differing according to sex may contribute to migraine among the youth	3
Effective treatments for FGF12-related early-onset epileptic encephalopathies patients	3
Lacosamide monotherapy for the treatment of childhood epilepsy with centrotemporal spikes	3