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| 36658335 | Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. | | 2023 |
| 36372936 | ANAÂ Podcasts & Webinars: Genetics of Epilepsy. | Annals of Neurology | 2023 |
| 36307226 | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>. | Neurology | 2023 |
| 35701389 | Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice. | Developmental Medicine and Child Neurology | 2023 |
| 35945246 | Unexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing. | European Journal of Human Genetics | 2023 |
| 36323522 | Complications of Influenza A or B Virus Infection in Individuals With -Positive Dravet Syndrome. | Neurology | 2023 |
| 36196777 | Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. | Epilepsia | 2023 |
| 36117209 | Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development. | Molecular Psychiatry | 2023 |
| 36446895 | Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability. | Eur J Hum Genet | 2023 |
| 37951160 | Are Germline Mosaic TSC1/2 Variants Present in Controls? Implications for Diagnosis. | | 2023 |
| 37597357 | Generation of an iPSC line (FINi001-A) from a girl with developmental and epileptic encephalopathy due to a heterozygous gain-of-function p.R1882Q variant in the voltage-gated sodium channel Na<sub>v</sub>1.2 protein encoded by the SCN2A gene. | Stem Cell Res | 2023 |
| 37597255 | Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture. | Ann Neurol | 2023 |
| 37596007 | Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. | Lancet Neurol | 2023 |
| 37977818 | Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. | | 2023 |
| 37628618 | Aicardi Syndrome Is a Genetically Heterogeneous Disorder. | | 2023 |
| 37873138 | Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature. | medRxiv | 2023 |
| 37034625 | Rare variants in cause delayed development, intellectual disability, autism, and epilepsy. | | 2023 |
| 36779245 | WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. | | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 36775823 | Indications and prescribing patterns of antiseizure medications in children in New Zealand. | | 2023 |
| 36581463 | Epidemiology of Developmental and Epileptic Encephalopathy and of Intellectual Disability and Epilepsy in Children. | | 2023 |
| 37205386 | Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an poison exon in epilepsy. | | 2023 |
| 37265603 | Cation leak: a common functional defect causing developmental and epileptic encephalopathy. | | 2023 |
| 37075569 | The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants. | | 2023 |
| 36813574 | Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy. | | 2023 |
| 36751956 | Differential diagnosis of familial adult myoclonic epilepsy. | Epilepsia | 2023 |
| 37006128 | Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. | Brain | 2023 |
| 36808730 | Genes4Epilepsy: An epilepsy gene resource. | | 2023 |
| 36750385 | Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies. | | 2023 |
| 37126322 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | JAMA Neurol | 2023 |
| 36868206 | Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. | Am J Hum Genet | 2023 |
| 37308910 | Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. | Orphanet J Rare Dis | 2023 |
| 36463826 | Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopment. | Epilepsy Behav | 2023 |
| 36855230 | The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies. | | 2023 |
| 37039534 | Recognition and epileptology of protracted CLN3 disease. | | 2023 |
| 37543865 | Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial. | Epilepsia | 2023 |
| 35065030 | Lightning progress in child neurology in the past 20 years. | Lancet Neurology, The | 2022 |
| 35397174 | Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death. | Epilepsia | 2022 |
| 36314457 | Does long-term phenytoin have a place in Dravet syndrome? | Annals of Clinical and Translational Neurology | 2022 |
| 35395208 | Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. | Am J Hum Genet | 2022 |
| 36367278 | The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome. | Am J Med Genet A | 2022 |
| 36229163 | Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome. | AJNR Am J Neuroradiol | 2022 |
| 36030538 | Mosaicism in tuberous sclerosis complex:Â Lowering the threshold for clinical reporting. | Human Mutation | 2022 |
| 35441706 | A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome. | Epilepsia | 2022 |
| 35383912 | COVID-19 vaccine in patients with Dravet syndrome: Observations and real-world experiences. | Epilepsia | 2022 |
| 36288729 | A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure. | Am J Hum Genet | 2022 |
| 35696452 | The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. | Brain | 2022 |
| 35503725 | International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. | Epilepsia | 2022 |
| 35503717 | International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. | Epilepsia | 2022 |
| 35503716 | ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions. | Epilepsia | 2022 |