Identification of common genetic and molecular signatures in migraine and comorbid conditions.

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

Pathophysiological roles of neural stem cells in neuropsychiatric diseases: from plasticity to pharmacological targeting.

Glymphatic system dysfunction in epilepsy: a review of mechanisms and clinical evidence.

Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.

Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.

Molecular mechanisms underlying the ferroptosis-induced epileptiform activity in mouse cortical slices.

Stimulating amyloid-β clearance in cerebral amyloid angiopathy with low-sodium oxybate and/or non-invasive vagus nerve stimulation (Clear-Brain): study protocol for a randomised pre-post trial.

Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.

Primary Adrenal Insufficiency in Pseudo-Neonatal Adrenoleukodystrophy Case Report.

Molecular connectivity studies of cerebral glucose metabolism and blood flow: A scoping review.

Glymphatic System Dysfunction in Central Nervous System Diseases.

α-asaronol alleviates seizures, neuroinflammation and cognitive deficits in a mice model of lithium-pilocarpine-induced seizures.

Etiological Analysis and Classification of 108 Patients with Infantile Epileptic Spasms Syndrome Based on the 2017 International League Against Epilepsy Classification.

Insulin Resistance as a Shared Pathophysiological Driver in Neurological Disorders: a Narrative Review.

Physiological Regulatory Mechanisms of Neurovascular Coupling and the Role of Its Dysfunction in Neurological Diseases.

The Citric Acid Cycle Modulates Neurologic Health and Is a Therapeutic Target of Dietary and Genetic Modification in Metabolic Disease.

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.

Continuing education course on genetic epilepsies was held by the Chilean society of epileptology.

Thiazolidinedione and reduced epilepsy risk: A population-based study using target trial emulation.

mtDNA leakage promotes neuron-glia crosstalk to induce epilepsy by cGAS-STING-driven neuroinflammation and serine metabolic reprogramming.

Cardiovascular and bone health comorbidities in epilepsy.

EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.

Impact of Early Intervention on the Developmental and Ocular Outcome of Patients With Cobalamin C Deficiency Identified Through Newborn Screening.

Arterial spin labeling reveals cerebral perfusion changes associated with involuntary movements in acute encephalopathy with biphasic seizures and late reduced diffusion: A case report.

Adverse events and tolerability of ketogenic diets - a systematic literature analysis.

Ketogenic diet sex-dependent effects on rat bone marrow cells during development and β-HB protection in hypoglycemia.

AAV-mediated gene therapy in a SLC13A5 citrate transporter disorder model rescues epileptic and metabolic phenotypes.

Decoding the brain's ATG8 paralog code: LC3-GABARAP specialization at synapses and the astrocyte-neuron interface.

Association of atherogenic index of plasma and post-stroke epilepsy in patients with ischemic stroke: a multicenter retrospective study in China.

Intrauterine exposure to maternal diabetes and the risk of developing epilepsy in children: a national cohort study of 2.3 million children.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

The associations between epilepsy, metabolism, and their clinical implications.

Identifying the shared genes and their related microRNAs, metabolites, and pathways in ischemic stroke and epilepsy.

The neuropathological mechanisms underlying the inborn errors of lysine metabolism.

Oligodendrocyte: Development, Plasticity, Biological Functions, Diseases, and Therapeutic Targets.

NMR metabolomic profiling of cerebrospinal fluid from dogs with meningoencephalitis of unknown origin demonstrates metabolic similarities to multiple sclerosis.

Navigating the Ethereal Tightrope: The Nanogenerator Manipulates Neurons for Immune Equilibrium.

Validation of a Pediatric Cognitive Assessment Tool to Advance Knowledge on Children's Cognitive Development, Health Risk Factors, and Health-promoting Interventions in Sub-Saharan Regions.

The immunoproteasome as a neuroimmune hub in the central nervous system: from proteostasis stress to inflammatory pathology.

In search of "what really matters": Insights from a web-based survey on Patient-Centered Outcomes in GLUT1DS.

Incident and prevalent peripartum mental illness in mothers with multiple sclerosis and other chronic diseases in Sweden.

Cannabinoids and drug-drug pharmacokinetic interactions: Deciphering the risks.

Maternal Diabetes and Risk of Epilepsy in Offspring.

Dysfunction of GABAergic interneurons underlies altered neural network oscillations associated with epileptiform activity in PPT1-deficient mice.

Association of allostatic load with frailty trajectories and the mediating role of depressive symptoms.

Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.

Atypical Histopathological Findings in an Epilepsy Surgery Case of Sturge-Weber Syndrome With Coexisting Developmental Venous Anomaly.

Towards Simplification of Ketogenic Diet in Epilepsy: Effect of Caprylic (C8) and Capric (C10) Acid on the Mitochondrial Respiratory Chain in Murine Hippocampal Neurons In Vitro.

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG.

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency.

A Rare Intruder: Neonatal Meningoencephalitis by Edwardsiella tarda Requiring Systemic and Intrathecal Antibiotics and Repeated Neurosurgery.

Sodium Correction Rates and Associated Outcomes Among Patients With Severe Hyponatremia : A Retrospective Cohort Study.

Natural History and Prognostic Factors in Pediatric Alexander Disease: A Cohort Study.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.

Zinc and Copper Metallic Instability: Investigating Altered Metal Functionality in both Human and Animal Studies.

Mimics and Diagnostic Pitfalls of Anti-Adenylate Kinase 5 Limbic Encephalitis.

Clinical characteristics, risk factors, and prognostic modeling for poor outcomes in children with influenza-associated encephalopathy: A retrospective cohort study.

ADK deficiency without hypermethioninemia presenting as intractable epilepsy: a rare neurometabolic case and literature review.

Multisequence MRI Enables High-Fidelity FDG-PET Synthesis for Epilepsy Using GANs.

Frameshift variants in the UBTF gene are associated with neurodevelopmental disorders.

Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.

Metabolomics-Driven Integration of Traditional Chinese Medicine for Neurological Disorders: From Precision Diagnosis to Therapeutic Innovation.

Modulation of Gut Microbiome and Metabolome as One of the Potential Mechanisms of Ketogenic Diet Effect in the Treatment of Epilepsy.

Neuroimmune Regulation by TRPM2 Channels.

Current neonatal seizure classification and approach to the newborn with seizure.

A mouse model of a patient derived P544L mutation in the Slc6a8 gene shows hypoactivity and cognitive deficits.

Hydroalcoholic extract of Benincasa hispida (Thunb.) Cogn. reinstates renal structural and functional dynamics compromised in diabetic mice: molecular insights through integration of transcriptomics and proteomics.

Primary oculoleptomeningeal transthyretin amyloidosis with subarachnoid hemorrhages, visual loss, and heart and skin amyloid deposits.

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing.

An Emerging Role for OGDHL: From Mitochondrial Energy Metabolism to Neurodevelopmental Disorders.

Fahr syndrome associated with hypoparathyroidism: Case report.

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate.

Neurological, metabolic and inflammatory phenotypes in a mouse model of ECHS1 deficiency.

Topiramate-induced distal renal tubular acidosis presenting as critical hypokalaemia.

Gut microbiota-bile acid metabolic disorder involved in the cognitive impairments in epilepsy through HO-1 dependent ferroptosis.

Association of metabolic disorders and lifestyle behaviors with epilepsy: Evidence from the NHANES database.

Ammonia reduces glutamine synthetase expression in astrocytes via activation of Hippo-YAP signaling pathways.

Impact of High-Dose Tafamidis on Hereditary ATTR (ATTRv) Amyloidosis With Central Nervous System Involvement: Two Case Reports With Clinical, Radiological and Cerebrospinal Fluid Follow Up.

Juvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.

Gastrointestinal symptoms in neuronal ceroid lipofuscinoses (NCLs): an observational study on prevalence, timing of progression, and impact on quality of life.

SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights.

Astrocytes differentiated from patient iPSCs model the rare leukodystrophy MLC and uncover disease-linked maturation defects and Kir4.1 channel dysfunction.

Association Between GLP-1 Receptor Agonist Use and Epilepsy Risk in Type 2 Diabetes.

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience.

Case Report: Congenital neurosyphilis presenting as post-hemorrhagic hydrocephalus in a preterm infant and a review of literature.

Alterations in serum metabolomics predict drug-resistant epilepsy.

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.

Dysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh syndrome.

MRI-DTI Biomarkers Along the Continuum of Behavioral Variant Frontotemporal Dementia.

A multicenter study on clinico-epidemiological profile of phenylketonuria in Egyptian children.

Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants.

Intranasal Liposomal Trimetazidine Nanocarriers Modulate Neuroinflammation and Neurotransmission via the HMGB1/TLR4/NF-κB Pathway in an Experimental Epilepsy Model.

First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial.

Clinical analysis of non-ketotic hyperglycemia with reversible cortical blindness: a case report.

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.

Seizure recurrence after GLP-1 receptor agonist initiation in adults with epilepsy.

Prominent U-waves without QT prolongation in X-linked creatine transporter deficiency caused by SLC6A8 variants.

Global, regional, and national burden of headache disorders, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Oxidative stress and neuronal alteration: Mitochondrial dysfunction as a key player in intractable epilepsy - a narrative review.

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.

The interplay between metabolism and neuroinflammation in epilepsy: mechanisms and therapeutic perspectives.

Transition towards healthcare 'net zero': modelling condition-specific patient travel carbon emission estimations by transport mode in a retrospective population-based cohort study, Greater Glasgow, UK.

The Gaucher Earlier Diagnosis Consensus point-scoring system for children and young adults: a retrospective and prospective evaluation in Korea.

Interrogating Physiological Functions with Light and Chemicals.

Rethinking parvalbumin: From passive marker to active modulator of hippocampal circuits.

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Sturge-Weber Syndrome Without Cutaneous Stigmata Versus Encephalocraniocutaneous Lipomatosis Without Craniocutaneous Lipomatosis: A Case Report.

Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases.

Beyond Impaired GABAergic Signaling: Inflammation and Metabolic Dysfunction in Genetic Epilepsy Induced by GABRG2 Mutation.

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.

Sex differences in clinical and prognostic trajectories in patients with idiopathic REM sleep behavior disorder: Insights from the FARPRESTO cohort.

Mechanistic role of gliflozins-induced ketosis in epileptogenesis and epilepsy: Rubric known and unknown.

Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.

Predicting oxcarbazepine-induced hyponatremia in adult epilepsy patients: A multicenter machine learning analysis using real-world CDM data.

Feline neurological disease in a veterinary referral hospital in the UK: clinical diagnosis, neuroanatomical localisation and VITAMIN D-based aetiological distribution.

Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsy.

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

Hypophosphatemia in suspected seizures evaluated in first seizure clinics and neurology consults.

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

GLUT1DS: focus on motor profile.

Metabolic reprogramming in diabetes and other endocrine and metabolic disorders: exploring the Warburg effect, ketones, and SGLT2 inhibitors.

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

Proteome-Wide Mendelian Randomization Reveals Novel Protein Targets for Epilepsy.

siRNA for REST ameliorates symptoms in ALS mice and serum REST predicts disease prognosis and survival in ALS patients.

Protein glycosylation and synaptic transmission: brain glycogen keeps them separated.

Prevalence and risk factors of seizures in cerebral amyloid angiopathy.

Advancing Understanding of Epilepsy and Type 1 Diabetes Mellitus: A Global Perspective on Research Trends and Future Directions.

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

Global burden of 292 causes of death in 204 countries and territories and 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Global age-sex-specific all-cause mortality and life expectancy estimates for 204 countries and territories and 660 subnational locations, 1950-2023: a demographic analysis for the Global Burden of Disease Study 2023.

Burden of 375 diseases and injuries, risk-attributable burden of 88 risk factors, and healthy life expectancy in 204 countries and territories, including 660 subnational locations, 1990-2023: a systematic analysis for the Global Burden of Disease Study 2023.

Partial substitution of ketogenic diet therapy with a blended diet: Evaluation of clinical practice in neurologically impaired fully tube fed children.

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

Insights into ALG3-CDG: A case study combining glycan profiling and genetic analysis.

Biallelic ACSF3 variants with combined malonic and methylmalonic acidemia and associated developmental epileptic encephalopathy phenotype: A novel genotype-phenotype correlation.

Uncovering Clinical and Functional Neuroimaging Characteristics of Overt Stage Phenotypes Within the α-Synucleinopathy Spectrum.

Palliative Care Approach in a Case of Severe Nonketotic Hyperglycinemia With Long Survival: A Case Report.

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation.

Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency.

Association Discovery Approach in Healthcare Big Data to Identify Drug Safety and Drug Repurposing Signals.

In Vivo/In vitro metabolic profiling and evaluation of key metabolites of QO-83, a novel KCNQ channel opener with antiepileptic potential.

Molecular deconstruction of the pre-Bötzinger Complex/Nucleus Ambiguus (preBötC/NA) region: cellular constituencies and transcriptional responses to repeated seizures in the rat hindbrain.

[Immunity and epilepsy. Autoimmune encephalitis and epilepsy linked to autoimmune disorders].

Pharmacological Diversity of Flavonoids and Their Clinical Application Prospects in Neurological Disorders.

Toward a working definition of ketogenic diet resistance in GLUT1 deficiency syndrome.

Screening of metabolic markers in pediatric epilepsy disorders.

Epileptogenic zone-targeting nanoparticle drug delivery system for antiseizure medication.

A GABRB3 mutation (c.5G>A, p.Trp2*) in twins with generalized epilepsy with febrile seizures: A case report.

The burden of comorbidities and comedication in adults with epilepsy.

The Ketogenic Diet Through a Metabolomic Lens: Biochemical Pathways, Therapeutic Applications, and Analytical Challenges.

Voltage-Gated Sodium Channel Dysfunction in Epilepsy: Zebrafish Models for Therapeutics.

Children With Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.

Neurovascular Pathophysiology and Emerging Biomarkers in Cerebral Malaria: An Integrative Perspective.

Comprehensive genotypic, phenotypic, and biochemical characterization of GOT2 deficiency: A progressive neurodevelopmental disorder with epilepsy and abnormal movements.

Severe non-diabetic ketoacidosis due to starvation and Graves' disease.

Individual lipid alterations at the origin of neuronal Ceramide Synthase defects.

Sport Activities for Children and Adolescents: Part 2. Joint Position Statement of Paediatric Societies on Physical Activity and Sport Recommendations for Children With Specific Chronic Disease Conditions.

Epileptic seizures associated with denosumab.

CLN2 Disease: Current Understandings, Challenges, and Future Directions.

[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].

Genetic association and potential mediators between subjective well-being and cardiovascular events: A bidirectional two-sample, two-step Mendelian randomization study.

Seizures and hypoparathyroidism post-thyroidectomy: Fahr's syndrome.

Long-Term Open-Label Study Evaluating Oral Miglustat Treatment in Patients With Neuronal Ceroid Lipofuscinosis Type 3.

Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome.

Astrocyte Lipid Droplet Dynamics Orchestrate Neurological Disorders and Therapeutic Horizons.

Intracranial calcifications in congenital viral infections: mechanisms and cellular roles.

Safety and efficacy of Igk-TATk-CDKL5 gene therapy in mosaic CDKL5 deficiency.

Genetic disorders of dolichol synthesis and utilization.

Cerebral Palsy Associated With Neonatal Encephalopathy: Review of Te Rēhita a Hōkai Nukurangi Aotearoa-The New Zealand Cerebral Palsy Register (NZCPR) Data.

[Epileptogenesis and risk factors of symptomatic epileptic seizures in patients with acute cerebrovascular accidents].

Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.

Beyond Seizures: A Comprehensive Review of Giant Somatosensory Evoked Potentials.

Sleep Disorders in Infants and Toddlers with Hypoxic Ischemic Encephalopathy Treated with Therapeutic Hypothermia: A Case-Control Study Using the SDSC.

Recent insights into the implications of UGDH mutations for human developmental disease.

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow.

Exploration of autophagy-related molecular mechanisms underlying epilepsy using multiple datasets.

Cardiovascular disease and microbiome: focus on ischemic stroke.

[Clinical characteristics and efficacy of glyceryl phenylbutyrate treatment in 20 pediatric patients with urea cycle disorder].

The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.

Co-morbid seizures in frontotemporal dementia: What do they tell us?

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.

Epilepsy and systemic autoimmune diseases: A bidirectional two-sample Mendelian randomization study.

McLeod syndrome mimicking mitochondrial myopathy due to a novel in-frame duplication in the XK gene.

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Neonatal hypoglycaemic brain injury, a common cause of early-childhood epilepsy in India: A prospective longitudinal study on aetiologies and outcomes.

Associations between epilepsy-related polygenic risk and brain morphology in childhood.

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.

Design considerations for C9orf72 disease prevention trials.

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature.

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.

Cognitive dysfunction in systemic lupus erythematosus: A pilot study on the role of serum neuron-specific enolase levels.