Characterizing SCN1A -Related Disorders Using Real-World Data Across 681 Patient-Years.

Mitochondrial Dysfunction in Monogenic Developmental and Epileptic Encephalopathies.

Research progress in SYNGAP1-related neurodevelopmental disorders: from pathogenesis to therapeutic strategies.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Neurocardiogenetics: Exploring the association of rare RYR2 variants with neuropsychiatric disorders in general and disease populations.

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy.

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

Endoplasmic reticulum protein retention and disturbed proteostasis is a common pathology for a subset of autism: evidence from mutations in GABAA receptors and GABA transporter 1.

International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Seizure outcomes after VNS therapy in children with drug-resistant epilepsy due to monogenic etiologies versus malformations of cortical development.

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

Atypical GNAO1 variants in severe childhood speech disorders: clinical, genetic, and molecular insights.

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

Precision medicine for sodium channelopathy-related autism and epilepsy.

Genetic Variants and Disease Mechanisms: Lessons from Monogenic Childhood Epilepsies.

Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy.

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

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

Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy.

Whole Exome Sequencing Based Diagnostics in Complex Childhood Epilepsy Syndromes-A Cohort Study on Clinical Utility.

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical Organoids.

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

CSF IL-6 in children with neuroinflammatory conditions.

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

Emerging Insights into the Pathogenic Mechanisms of Dravet Syndrome.

Increased Activity-Dependent Bulk Endocytosis in Huntington's Disease Results From Huntingtin Haploinsufficiency.

Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

Bridging the gap: Canine in vitro models of the central nervous system as tools to study pathogenetic mechanisms in neurodegenerative disease and neuroinfectiology.

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls.

Convergent depression of activity-dependent bulk endocytosis in rodent models of autism spectrum disorder.

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy.

Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed.

Rare disease gene association discovery in the 100,000 Genomes Project.

State-of-the-art gene therapy in epilepsy.

Roadmap to advance therapeutics for SYNGAP1-related disorder: a patient organization perspective from SynGAP Research Fund.

Polygenic risk score to the rescue of monogenic diseases? The case of epilepsy.

Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants.

Novel PNPLA8 variants associated with primary ovarian insufficiency, tremors, cerebellar ataxia and limb weakness: a case report and literature review.

National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.

Human iPSC-derived microglia sense and dampen hyperexcitability of cortical neurons carrying the epilepsy-associated SCN2A-L1342P mutation.

A homozygous TARS2 variant is a novel cause of syndromic neonatal diabetes.

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

Tremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.

Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review.

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Developmental and epileptic encephalopathies.

Preclinical studies of gene replacement therapy for CDKL5 deficiency disorder.

Enhanced hippocampal LTP but normal NMDA receptor and AMPA receptor function in a rat model of CDKL5 deficiency disorder.

The 2017 and 2022 ILAE epilepsy classification systems identify needs and opportunities in care: A paediatric hospital-based study.

Genome Sequencing for Diagnosing Rare Diseases.

Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.

Epilepsies with onset during the first year of life: A prospective study on syndromes, etiologies, and outcomes.

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.

G protein-coupled receptor (GPCR) gene variants and human genetic disease.

Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.

Cerebral visual impairment: genetic diagnoses and phenotypic associations.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

Genetic architecture of childhood speech disorder: a review.

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

FDA Patient-Focused Drug Development Guidances: Considerations for Trial Readiness in Rare Developmental and Epileptic Encephalopathies.

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.

Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories.

The role of copy number variants in the genetic architecture of common familial epilepsies.

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.

BK Channelopathies and KCNMA1-Linked Disease Models.

Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.

RNA therapeutics for epilepsy: An emerging modality for drug discovery.

Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.

Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America.

Reversal of cell, circuit and seizure phenotypes in a mouse model of DNM1 epileptic encephalopathy.

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

Diet in treatment of autism spectrum disorders.

Recent advances in neurometabolic diseases: The genetic role in the modern era.

Strain-dependent effects on neurobehavioral and seizure phenotypes in Scn2aK1422E mice.

Zebrafish as an Innovative Tool for Epilepsy Modeling: State of the Art and Potential Future Directions.

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.

Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

Case report: Neonatal diabetes mellitus caused by KCNJ11 mutation presenting with intracranial hemorrhage.

Pediatric-Onset Epilepsy and Developmental Epileptic Encephalopathies Followed by Early-Onset Parkinsonism.

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.

Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.

Genes4Epilepsy: An epilepsy gene resource.

Homozygous Missense Variant in the N-Terminal Region of ANK3 Gene Is Associated with Developmental Delay, Seizures, Speech Abnormality, and Aggressive Behavior.

Cytogenomic epileptology.

GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes.

Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies.

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.

The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population.

A systems medicine strategy to predict the efficacy of drugs for monogenic epilepsies.

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

GABRG1 variant as a potential novel cause of epileptic encephalopathy, hypotonia, and global developmental delay.

Expression of a Secretable, Cell-Penetrating CDKL5 Protein Enhances the Efficacy of Gene Therapy for CDKL5 Deficiency Disorder.

Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.

Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.

Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies.

Understanding Protein Protocadherin-19 (PCDH19) Syndrome: A Literature Review of the Pathophysiology.

Genomics in the presurgical epilepsy evaluation.

Sulfonylurea for improving neurological features in neonatal diabetes: A systematic review and meta-analyses.

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Multiple Early-Life Seizures Alters Neonatal Communicative Behavior in Fmr1 Knockout Mice.

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome.

'Channeling' therapeutic discovery for epileptic encephalopathy through iPSC technologies.

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology.

Reflex seizures in rare monogenic epilepsies.

Inhibition of MEK-ERK signaling reduces seizures in two mouse models of tuberous sclerosis complex.

The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Genetic diagnosis of basal ganglia disease in childhood.

Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.

Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.

Identification and quantification of oligogenic loss-of-function disorders.

Novel treatments in epilepsy guided by genetic diagnosis.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Monogenic Epilepsies: Disease Mechanisms, Clinical Phenotypes, and Targeted Therapies.

Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.

CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.

Dystonia as a prominent presenting feature in developmental and epileptic encephalopathies: A case series.

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.

Expanding the KIF4A-associated phenotype.

Predictors of cognitive, behavioural and academic difficulties in NF1.

PPFIA4 mutation: A second hit in POLG related disease?

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.

Retinoschisis and Norrie disease: a missing link.

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.

Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.

Genetic Factors Underlying Sudden Infant Death Syndrome.

Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.

Genetic Dystonias: Update on Classification and New Genetic Discoveries.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.

Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter.

No association between SCN9A and monogenic human epilepsy disorders.

Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.

The off-label use of anakinra in pediatric systemic autoinflammatory diseases.

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Monogenic variants in dystonia: an exome-wide sequencing study.

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Tuberous Sclerosis Complex as Disease Model for Investigating mTOR-Related Gliopathy During Epileptogenesis.

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

[Hereditary Parkinson’s disease as a new clinical manifestation of the damaged POLG gene].

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data.

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

CACNA1H variants are not a cause of monogenic epilepsy.

Ischemic Stroke in Young Adults.

A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat.

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants.

Migraine With Aura as Early Disease Marker in Hereditary Dutch-Type Cerebral Amyloid Angiopathy.

Grandparental genotyping enhances exome variant interpretation.

From Genetic Testing to Precision Medicine in Epilepsy.

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders.

A systems-level framework for anti-epilepsy drug discovery.

Pharmacological Treatments for Fragile X Syndrome Based on Synaptic Dysfunction.

De novo NSF mutations cause early infantile epileptic encephalopathy.

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.

Pharmacological approaches to tackle NCLs.

New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies.

Tackling Epilepsy With High-definition Precision Medicine: A Review.

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

Genetics of neonatal-onset epilepsies.

DEGS1 variant causes neurological disorder.

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Genetics of neonatal onset epilepsies: An overview.

Mouse Models of Familial Hemiplegic Migraine for Studying Migraine Pathophysiology.

De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.

Stiripentol protects against calcium oxalate nephrolithiasis and ethylene glycol poisoning.

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies.

[Whole Exome Sequencing in daily practice: the possibilities and impossibilities of this diagnostic test].

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant.

Blood-Brain Barrier: From Physiology to Disease and Back.

Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.

Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy.

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

To diet or not to diet in neonatal diabetes responding to sulfonylurea treatment.

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Electrocorticographic telemetric recording in unrestrained mouse pups.

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.