Brain & Development

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
Clinical characteristics of KCNQ2 encephalopathy	18
Severe encephalopathy associated with SARS-CoV-2 Omicron BA.1 variant infection in a neonate	18
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
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
Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants	15
Cannabidiol-enriched oil in children and adults with treatment-resistant epilepsy-does tolerance exist?	15
Epidemiological investigation of spinal muscular atrophy in Japan	15
Movement disorders in children with congenital Zika virus syndrome	14
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
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
Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study	13
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	12

Chaperone therapy for molecular pathology in lysosomal diseases	12
Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan	11
High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency	11
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
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
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
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
Biotinidase deficiency presenting as Neuromyelitis Optica Spectrum Disorder	8
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency	8
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
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
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
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
Growth and differentiation factor-15 as a potential prognostic biomarker for status-epilepticus-associated-with-fever: A pilot study	6
Vitamin D and Nerve Conduction In Pediatric Type-1 Diabetes Mellitus	6

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
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
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
Two cases of persistent falcine and occipital sinuses	4
Chaperone therapy for lysosomal and non-lysosomal protein misfolding diseases	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
Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint’s symptoms	4
Long-term efficacy of low-dose perampanel for progressive myoclonus epilepsy in a patient with Gaucher disease type 3	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
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
Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report	3
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause	3
Effectiveness of the internet based parent education program on applied behavior analysis for parents of children with autism spectrum disorder	3
Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement	3
A familial Sonic Hedgehog (SHH) stop-gain mutation associated with agenesis of the corpus callosum, mild intellectual disability and facial dysmorphism	3
Lacosamide monotherapy for the treatment of childhood epilepsy with centrotemporal spikes	3
Effective treatments for FGF12-related early-onset epileptic encephalopathies patients	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
Sex interaction of white matter microstructure and verbal IQ in corpus callosum in typically developing children and adolescents	3

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings	3
Low-dose phenobarbital for epilepsy with myoclonic absences: A case report	3
A serial analysis of serum aspartate aminotransferase levels in patients with acute encephalopathy with biphasic seizures and late reduced diffusion and prolonged febrile seizure	3
Neurochemistry evaluated by MR spectroscopy in a patient with SPTAN1-related developmental and epileptic encephalopathy	3
Cerebral creatine deficiency disorders – A clinical, genetic and follow up study from India	3
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene	3
Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression	3
Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease	3
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region	3
Epilepsy in patients with advanced Fukuyama congenital muscular dystrophy	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
Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti	3
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis	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
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study	3
Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance	3
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation	3
Prevalence and clinical characteristics of children with medical complexity in Tottori Prefecture, Japan: A population-based longitudinal study	3
Object identification in cerebral visual impairment characterized by gaze behavior and image saliency analysis	3
A six-year longitudinal study of neurocognitive problems in children with epilepsy	3
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province	3
Administration of nusinersen via paramedian approach for spinal muscular atrophy	3
Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia	3
Two cases of persistent falcine and occipital sinuses	3
Reliability and validity of the Japanese version of the Behavior Problem Inventory-Short Form	3
A case of infantile Tay-Sachs disease with late onset spasms	3
Gallbladder cancer with ascites in a child with metachromatic leukodystrophy	3
Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach	3
A pilot study of combining social skills training and parenting training for children with autism spectrum disorders and their parents in Japan	3
Early maladaptive schemas differing according to sex may contribute to migraine among the youth	3
Severe and rare neurological manifestations following COVID-19 infection in children: A Malaysian tertiary centre experience	3
Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness	3
Chemotherapy-induced autoimmune-mediated encephalitis during germinoma treatment	3
Severe pallid breath-holding spells treated with low-dose theophylline	3
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy	3
Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II	2
A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot	2
Neurological prognostic factors for human herpes virus 6/7-associated acute encephalopathy in children: A single-center study	2
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency	2
Lenticular nuclei to thalamic ratio on PET is useful for diagnosis of GLUT1 deficiency syndrome	2
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	2
Drug-resistant temporal lobe epilepsy due to middle fossa meningoencephalocele in a child: A surgical case report	2
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities	2
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A	2
Novel and recurrent ASPM mutations of founder effect in Chinese population	2
Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report	2
Development of a reading difficulty questionnaire for adolescents in Japanese	2
Immediate and progressive neurological damage after electrical injury: A pediatric case report	2
Neuroplasticity during the transition period: How the adolescent brain can recover from aphasia. A pilot study	2
Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome	2
Neurological complications after living-donor liver transplantation in children	2
Convergent validity of the developmental coordination disorder checklist using soft neurological signs	2
Acute encephalopathy with biphasic seizures and late reduced diffusion; posterior frontal hyperperfusion before late seizures revealed by arterial spin labeling: A case report	2
International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country	2
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report	2
Pre-movement gating of somatosensory evoked potentials in Tourette syndrome	2
An autopsy case of recurrent pneumothorax and peliosis-like intrapulmonary hematoma with X-linked myotubular myopathy	2
Forced normalization of Lennox-Gastaut syndrome using lacosamide: A case report	2
Do low birth weight infants not see eyes? Face recognition in infancy	2
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families	2
Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation	2
Impact of maternal dyslipidemia on infant neurodevelopment: The Japan Environment and Children’s Study	2
Regarding investigation of prognostic factors for HHV 6/7- associated acute encephalopathy	2
Late relapse of anti-N-methyl-d-aspartate receptor encephalitis with amusia and transiently reduced uptake in 123I-iomazenil single-photon emission computed tomography	2
A preliminary study of the different memory systems in neurofibromatosis type 1: What is impaired and what is spared?	2
A novel splice site CUL3 variant in a patient with neurodevelopmental delay	2
Repeated neonatal Needle-pricking stimulation alter neurodevelopment in adolescent rats	2
Successful treatment with dimethyl fumarate in a child with relapsing-remitting multiple sclerosis	2
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review	2
Nationwide survey of childhood Guillain-Barré syndrome, Fisher syndrome, and Bickerstaff brainstem encephalitis in Japan	2
Overlapping features of restless legs syndrome and growing pains in Turkish children and adolescents	2
Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant	2
A case of bilateral limbic and recurrent unilateral cortical encephalitis with anti-myelin oligodendrocyte glycoprotein antibody positivity	2
Impairment of autonomic emotional response for executive function in children with ADHD: A multi-modal fNIRS and pupillometric study during the Wisconsin Card Sorting Test	2
Diagnostic challenges of primary diffuse leptomeningeal melanomatosis in early adolescence: A case report	2
Antenatal presentation and supratentorial brain abnormalities in a child with Poretti-Boltshauser syndrome	2
The most severe form of LMNA-associated congenital muscular dystrophy	2
Perampanel therapy for intractable GRIN2D-related developmental and epileptic encephalopathy: A case report and literature review	2
Nonconvulsive status epilepticus following rotavirus gastroenteritis in two pediatric patients	2
Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease	2
Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy	2
Shuffling babies and autism spectrum disorder	1
Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12	1
Later efficacy of nusinersen treatment in adult patients with spinal muscular atrophy: A retrospective case study with a median 4-year follow-up	1
Association of O blood type with the prognosis of acute necrotizing encephalopathy in childhood: A single-center cohort study	1
Effects of increased physical therapy staffing in the neonatal intensive care unit on oral feeding maturation and neurodevelopment of extremely low birth weight infants	1
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients	1
Perampanel may be beneficial in Leigh syndrome by its anti-oxidative but not anti-epileptic effect	1
Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A	1
Involuntary movements as a prognostic factor for acute encephalopathy with biphasic seizures and late reduced diffusion	1
Altered serum levels of platelet-derived growth factor receptor β and cluster of differentiation 13 suggest a role for pericytes in West syndrome	1
Anti-GM2 antibody positive Guillain-Barré syndrome presenting with ataxia in a pediatric patient: An atypical manifestation	1
Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome	1
Serial changes of T1-, T2-weighted MR imaging and MR spectroscopy in Tay-Sachs disease with late onset spasms.	1