Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison.

Repeated Stress Escalates Aggression and Activity in Fronto-Limbic Regions in Cntnap2-/- Mice.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification.

A KCNC1 variant linked to Rett syndrome disrupts ER to Golgi trafficking of Kv3.1 channel.

Organ-Specific Histopathological Effects of Prenatal Alcohol Exposure: A Narrative Review.

Changes in hypsarrhythmia in West syndrome following combined high-dose prednisolone and vigabatrin therapy: A standardized, low-resolution, brain electromagnetic tomography study.

Context-dependent effects of adaptive immunity on IFN-α-mediated neurotoxicity in Aicardi-Goutières syndrome.

Updating guidelines for the diagnosis of fetal alcohol spectrum disorders (FASD) in Poland.

[Features of premorbid status in patients with Rett syndrome].

Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.

A Robust Methodological Framework for Generating Whole-Brain and Cortical Organoids From Diverse Healthy- and Patient-Derived Induced Pluripotent Stem Cell Lines.

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1S858R Schinzel-Giedion syndrome mouse.

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

A Developmental Study of MeCP2 with Core and Linker Histones Indicates a Dynamic Change During Adolescent Brain Development in a Region- and Strain-Specific Manner in Mice.

An exploratory in vitro co-culture of enteric neurons and smooth muscle cells demonstrates neuronal contribution to muscle layer formation.

Brain organoids in environmental neurotoxicology: applications, mechanisms, and future perspectives.

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

In vivo base editing of Chd3 rescues behavioural abnormalities in mice.

CDKL5 modulates the plasticity of excitatory synapses via liquid-liquid phase separation.

Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients.

Acetyl-carnitine improves hyperactivity and learning deficits in KAT6A haploinsufficient mice.

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.

Myosin 7a is required for maintaining the transducing stereocilia and for force transmission to the MET channel during cochlear hair cell development.

Longitudinal Behavior Phenotype Hallmarks in RNU4-2 Syndrome: Implications for Clinical Management.

CTBP1 In Brain Development: A Novel Variant c.107G>C,p.(R36P) Leads to a Distinct Neurodevelopmental Disorder.

A human electrophysiological signature of Fragile X pathophysiology is shared in V1 of Fmr1-/y mice.

Mortality Among Youth and Young Adults With Autism Spectrum Disorder, Intellectual Disability, or Cerebral Palsy.

Sod1 trisomy causes ENS developmental defects and susceptibility to Hirschsprung disease via neuronal Ret suppression and glial remodeling.

Neurological Consequences of Infantile Vitamin B12 Deficiency - A Prospective Cohort Study.

Neurophysiology in the mirror: A tri-layer model of mirror movements informed by TMS evidence.

Flocoumafen exposure induces skeletal developmental toxicity and neurotoxicity in zebrafish (Danio rerio).

Neurotoxicity and mechanism of metal and metal oxide nanoparticles.

An in vivo and in vitro spatiotemporal profile of human midbrain development.

A dual-reporter mouse for therapeutic discovery in Angelman syndrome.

Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy.

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.

Analysis of two guideline-compliant developmental neurotoxicity studies with imidacloprid to assist the interpretation of findings that impact global registrations.

A lipidation inhibitor rescues impaired neurite outgrowth caused by the CDC42 mutation associated with Takenouchi-Kosaki syndrome in Neuro2A cells.

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies.

The spectrum of neurodevelopmental disorders: comorbidities as clues to pathogenesis.

Neonicotinoid-Induced Neurotoxicity in Developing Brain: A Systematic Review.

Brain volume trajectories in Down syndrome and autosomal dominant Alzheimer's disease.

Single-cell atlas of the developing Down syndrome brain cortex.

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Dynamic allele usage of X-linked genes ameliorates neurodevelopmental disease phenotypes in brain organoids.

Familial Presentation of a Rare NCKAP1 Splice-Site Variant Associated With a Neurodevelopmental Disorder and Cutaneous Manifestations.

Role of B cells and pathogenic autoantibodies in autoimmune CNS and PNS neurologic diseases.

Inapparent maternal ZIKV infection impacts fetal brain development and postnatal behavior.

From Symptomatic Therapies to Disease-Modifying Approaches for Neuronal Sodium Channel Disorders.

Multiomic Analyses Reveal Brainstem Metabolic Changes in a Mouse Model of Dravet Syndrome.

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndrome.

Alterations in electroencephalography signals in female fragile X syndrome mouse model on a C57BL/6J background.

Developmental neurotoxicity evaluation of di(2-ethylhexyl) phthalate (DEHP) and three alternative plasticizers in human neurospheres.

Providing tailored support to neurodivergent nursing students during their placements.

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice.

Cerebral Cavernous Malformations Presenting With Epileptic Spasms in Children.

Generation of human pineal gland organoids with melatonin production for disease modeling.

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review.

Biophysical basis for brain folding and misfolding patterns in ferrets and humans.

Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome.

Vigabatrin-Associated Brain Magnetic Resonance Imaging Abnormalities in Two Children With WW domain-containing oxidoreductase-Related Epileptic Encephalopathy Syndrome.

Significant improvement of neurological and radiological findings caused by multiple lateral meningocele by cyst-subarachnoid shunt in a 6-year-old boy: case report.

Capicua regulates the survival of Cajal-Retzius cells in the postnatal hippocampus.

Morphological evidence suggestive of a hierarchical mode of glial cell diversification and intrinsic developmental plasticity within the murine enteric nervous system.

Biallelic FOXRED1 mutations cause infantile mitochondrial encephalopathy with complex I disassembly and basal ganglia degeneration.

Extracellular vesicle dysfunction contributes to synaptic and cognitive deficits in a mouse model of Angelman syndrome.

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

Cholinergic modulation of hippocampal CA1 pyramidal cell excitability in ArxGCG+7 mice.

Mid-gestational cell-type-specific transcriptomic signatures in the prefrontal and superior temporal cortex in Down syndrome.

Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.

Expanding the toolkit: An update on the evolution of new therapies for Lennox-Gastaut Syndrome.

Surgical management of Lennox-Gastaut syndrome: A focused update on resective surgery and corpus callosotomy.

PeriTox-M, a Cell-Based Assay for Peripheral Neurotoxicity with Improved Sensitivity to Mitochondrial Inhibitors.

Current approaches to the interpretation of bioactivity data from a neural network formation assay to inform developmental neurotoxicity potential of chemical exposure.

Neuroichthyosis: the interplay between brain and skin.

Developmentally dynamic chromatin state at loci regulating organ crosstalk by remote sensing and signaling.

Ventilatory Complexity Persists in Phox2b Mutant Mice Lacking the Retrotrapezoid Nucleus/Parafacial Respiratory Group (RTN/pFRG) and in Humans With Congenital Central Hypoventilation Syndrome.

Joint profiling of cell morphology and gene expression during in vitro neurodevelopment.

Recurrent Nausea and Hyponatraemia: Unmasking SIADH in a 50-Year-Old Woman.

The Role of Cytokines in the Development and Functioning of the Hypothalamic-Pituitary-Gonadal Axis in Mammals in Normal and Pathological Conditions.

Altered Short Non-Coding RNA Landscape in the Hippocampus of a Mouse Model of CDKL5 Deficiency Disorder.

Multi-targeting zinc finger nuclease vector unsilences paternal UBE3A in a mouse model of Angelman syndrome.

Calcium blockers protect against sensory epithelial damage and hearing loss in Cx26-cKO mice.

EEG functional connectivity as a marker of evolution from infantile epileptic spasms syndrome to Lennox-Gastaut syndrome.

A rapid and dynamic role for FMRP in the plasticity of adult neurons.

Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models.

Brain Pathology in Terminal Deletion of Chromosome 4 (4q- Syndrome): A Case Report.

Age-varying distinct neuroanatomy in young children with autism spectrum disorder and fragile X syndrome.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

A Celsr3 Mutation Linked to Tourette Disorder Disrupts Cortical Dendritic Patterning and Striatal Cholinergic Interneuron Excitability.

Development of Molecular Neuropathology in Down Syndrome across the Lifespan.

Oxytocin neurons drive melanocortin circuit maturation via vesicle release during a neonatal critical period.

Indications and timings for caffeine initiation in preterm infants.

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Primary cilia in neural development and disease.

Mitochondrial Leigh syndrome: the state of the art.

Comprehensive insights into DEHP neurotoxicity across the lifespan: Behavioral effects, mechanisms, and preventive strategies.

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.

Dandy-Walker Malformation and Optic Nerve Hypoplasia: A Developmental Case Highlighting the Psychiatric Impact of Central Nervous System Malformation.

Prevalence of Congenital Anomalies and Its Associated Factors Among Newborns in Central Ethiopia Region Public Hospitals, Ethiopia: A Retrospective Cross-Sectional Study, 2023.

Microglia Promote Neurodegeneration and Hyperkatifeia during Withdrawal and Abstinence from Binge Alcohol.

Understanding the neurobiology of infantile epileptic spasms syndrome (IESS): A comprehensive review.

Characterization of brain microstructural changes in children with infantile vitamin B12 deficiency using diffusion tensor imaging.

Integrated 3D human cerebral organoids and paediatric patient serum analysis reveals mechanisms and biomarkers of anaesthetic-induced neurotoxicity.

Rutin ameliorates sevoflurane-induced neurotoxicity by inhibiting microglial synaptic phagocytosis through the complement pathway.

Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series.

Ciliopathy-related B9 protein complex regulates ciliary axonemal microtubule posttranslational modifications and initiation of ciliogenesis.

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

A Novel Mouse Model for Developmental and Epileptic Encephalopathy by Purkinje Cell-Specific Deletion of Scn1b.

Early life ACE2 inhibition leads to long term anxiety-like behaviour in rats by disrupting the amygdala.

Prenatal alcohol exposure impairs offspring cognition through oxidative stress disrupting CREB/BDNF/TrkB signaling and GABAergic neuron deficits.

Developmental, hepatic, and neurotoxicity of dinotefuran and ameliorative effects of Rosmarinus officinalis.

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

ROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks: A Review and Description of the First Missense Variant.

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Comparison of physiologically based pharmacokinetic modeling platforms for developmental neurotoxicity in vitro to in vivo extrapolation.

The "Heart-and-Brain Interaction" in Newborns with Complex Congenital Heart Disease.

Vagus nerve stimulation therapy in Lennox-Gastaut syndrome (severe childhood epilepsy): plain language summary of a 2-year study.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Structural covariance network topology in individuals at clinical high risk for psychosis: the ENIGMA-CHR Study.

Psychometric properties of functional mobility outcome measures in children with arthrogryposis multiplex congenita.

Diapause history has lasting effects on adult brain gene expression in monarch butterflies.

Diagnosis of Lissencephaly in a Neonate After Antenatal Polyhydramnios and Suspicion of Fetal Esophageal Atresia: A Case Report.

Development of a network formation assay for developmental neurotoxicity hazard screening using 3D human iPSC derived BrainSpheres.

The interacting etiologies of hippocampal sclerosis in epilepsy: A scoping review.

Eph-ephrin signaling and its potential role in female reproductive tract development.

Persistent left superior vena cava discovered during central line insertion in a patient with Joubert syndrome: a case report.

Effects of Prenatal Opioid Exposure on the Brain and Neurodevelopment.

Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder.

High-Flow and Low-Flow Cerebrovascular Malformations Syndromes Associated With Klippel-Trénaunay and Parkes-Weber Syndromes. A Systematic Review.

DIP2C Deficiency Leads to Abnormal Sphingolipid Metabolism in Mice.

The promise of immunotherapy for central nervous system tumours.

Dеvеlоpmеntаl nеurоtоxісіty study оf pesticide Асеtаmіprіd in Wistar Hannover rats.

Altering rRNA 2'O-methylation pattern during neuronal differentiation is regulated by FMRP.

Early White Matter Microstructure Alterations in Infants with Down Syndrome.

Chronic granulomatous herpes simplex encephalitis in a child with digeorge syndrome- expanding the spectrum of herpes-associated neurological disease.

Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1.

Dysfunction of cortical GABAergic projection neurons as a major hallmark in a model of neuropsychiatric syndrome.

Depolarization block induction via slow NaV1.1 inactivation in Dravet syndrome.

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.

Voltage sensor interaction site for a selective small molecule Nav1.1 sodium channel potentiator that enhances firing of fast-spiking interneurons.

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus.

Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons.

De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.

Novel neuropathological observations in an adult with Dravet syndrome.

Three Distinct Neuropsychiatric Syndromes Following Pineal Teratoma Resection.

Developmental neurotoxicity of organophosphate flame retardants (OPFRs): risks to human health and ecosystems.

Testing Strategies for Metabolite-Mediated Neurotoxicity.

Neurodevelopment in congenital heart disease: a review of antenatal mechanisms and therapeutic potentials.

Cell Type-Specific Contributions of UBE3A to Angelman Syndrome Behavioral Phenotypes.

Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant: A Ribosomopathy Masquerading as Cerebral Palsy.

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons.

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Serotonergic receptor binding in the brainstem in the Sudden Infant Death Syndrome in a high-risk population.

A clinical and genotype-phenotype analysis of MACF1 variants.

Cortical versus hippocampal network dysfunction in a human brain assembloid model of epilepsy and intellectual disability.

Neonatal sevoflurane exposure disrupted fatty acids metabolism, leading to hypomyelination and neurological impairments.

Developmental progression of respiratory dysfunction in a mouse model of Dravet syndrome.

Dose optimization of NMDA for rat model of infantile spasms: Approach using EEG, behavior (Seizure) and histopathology.

Neuropsychiatric Disorders Among Adult Emergency Department Patients With Intellectual and Developmental Disabilities.

AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription.

Recent advances of epilepsy associated with neurofibromatosis type 1.

An evolutionarily conserved role for CTNNB1/β-CATENIN in regulating the development of the corpus callosum.

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.

Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.

Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.

Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI.

Molecular and developmental deficits in Smith-Magenis syndrome human stem cell-derived cortical neural models.

Atypical alpha oscillatory EEG dynamics in children with Angelman syndrome.

Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study.

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Human ectodermal organoids reveal the cellular origin of DiGeorge Syndrome.

Alterations of Brain Structural and Functional Connectivity Networks and Its Correlations With Cognitive Function in Patients With Hypothalamic Syndrome Following Craniopharyngioma Resection.

Gut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies.

Phenotypic variation in neural sensory processing by deletion size, age, and sex in Phelan-McDermid syndrome.

Novel Fetal Phenotype for Pan-Chung-Bellen Syndrome Including Congenital Diaphragmatic Hernia.

Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior.

Single-cell transcriptomics reveal oxidative phosphorylation and oxidative stress in the superior temporal plane of non-syndromic cleft lip and palate fetuses.

Blood-brain barrier-penetrating Angiopep-2/Sirtuin 1 nanoparticles rescue sevoflurane neurotoxicity through multi-omics identified necroptosis pathways.

Uncommon Allies: Van der Knaap Syndrome and Focal Segmental Glomerulosclerosis.

Childhood resolution of early abnormal miRNA following neonatal encephalopathy.

MSRB3 antioxidant activity is necessary for inner ear cuticular plate structure and hair bundle integrity.

Cystatin F-a key player in central nervous system disease.

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity.

New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review.

A zebrafish model unravels the role of PHF21A in neurodevelopment and epilepsy.

Comprehensive analysis of disease activity, neuropsychiatric symptoms, imaging features and risk factors for seizure in hospitalized patients with juvenile-onset neuropsychiatric systemic lupus erythematosus.

Thiamine Mitigates Nicotine Withdrawal Effects in Adolescent Male Rats: Modulation of Serotonin Metabolism, BDNF, Oxidative Stress, and Neuroinflammation.

Clinical phenotype and outcomes in autoimmune encephalitis after herpes simplex virus encephalitis: A systematic review and meta-analysis.

Vagal blockade of the brain-liver axis deters cancer-associated cachexia.

Regulation of cortical neurogenesis by MED13L via transcriptional priming and its implications for MED13L syndrome.

Centriolar protein PIBF1 is required for craniofacial and forebrain development.

Sporadic Dup15q Syndrome Presenting With Developmental Delay, Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy: A Case Report.

UBR-1 enzyme network regulates glutamate homeostasis to affect organismal behavior and developmental viability.

Low-to-Moderate Dosed Cranial Irradiation in Young Mice Induces Sex-Specific Metabolic Disturbances Later in Life.