|
| 38049202 | Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study. | Epilepsia | 2024 |
| 36256779 | Delineation of functionally essential protein regions for 242 neurodevelopmental genes. | Brain | 2023 |
| 37562820 | Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions. | Epilepsia | 2023 |
| 37750463 | Dravet syndrome: A systematic literature review of the illness burden. | Epilepsia Open | 2023 |
| 37977712 | Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial. | Lancet Neurol | 2023 |
| 37006128 | Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition. | Brain | 2023 |
| 37433712 | Unravelling key pathways in childhood ataxia to guide diagnosis and treatment. | Eur J Paediatr Neurol | 2023 |
| 36740581 | Comorbidities and predictors of health-related quality of life in Dravet syndrome: A 10-year, prospective follow-up study. | Epilepsia | 2023 |
| 36036558 | Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. | Brain | 2023 |
| 35037686 | Gene variant effects across sodium channelopathies predict function and guide precision therapy. | Brain | 2022 |
| 35618197 | Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. | Eur J Med Genet | 2022 |
| 35696452 | The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. | Brain | 2022 |
| 35074891 | Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies. | Neurology | 2022 |
| 34171626 | No evidence that SCN9A variants are associated with epilepsy. | Seizure | 2021 |
| 33681649 | Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop. | Epilepsia Open | 2021 |
| 34687210 | Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. | Brain | 2021 |
| 34247929 | Advances in genotype-phenotype associations for CACNA1A-related epilepsies. | Eur J Paediatr Neurol | 2021 |
| 32227486 | Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application. | Dev Med Child Neurol | 2020 |
| 33506622 | Anakinra usage in febrile infection related epilepsy syndrome: an international cohort. | Ann Clin Transl Neurol | 2020 |
| 32090326 | Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. | Epilepsia | 2020 |
| 31928904 | Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. | Eur J Paediatr Neurol | 2020 |
| 31924506 | Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies. | Eur J Paediatr Neurol | 2020 |
| 31980364 | Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification. | Eur J Paediatr Neurol | 2020 |
| 32690789 | Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohort. | Neurology | 2020 |
| 32801145 | Predicting functional effects of missense variants in voltage-gated sodium and calcium channels. | Sci Transl Med | 2020 |
| 32115692 | Knowing when and how to use epilepsy screening questionnaires. | Epilepsia | 2020 |
| 32168371 | A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. | Brain | 2020 |
| 30642535 | Editorial relating to paper by Schoonjans et al. EJPN 2019; A good night's sleep in Dravet syndrome - an unmet need. | Eur J Paediatr Neurol | 2019 |
| 31904126 | Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. | Epilepsia | 2019 |
| 31302675 | Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. | Brain | 2019 |
| 31178017 | Dravet syndrome - Time to consider the burden beyond the disease. | Eur J Paediatr Neurol | 2019 |
| 29348546 | Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. | Nat Rev Neurol | 2018 |
| 30195931 | Autism spectrum disorder, social communication difficulties, and developmental comorbidities in Sturge-Weber syndrome. | Epilepsy Behav | 2018 |
| 28880996 | Dravet syndrome and its mimics: Beyond SCN1A. | Epilepsia | 2017 |
| 28431364 | The humanistic and economic burden of Dravet syndrome on caregivers and families: Implications for future research. | Epilepsy Behav | 2017 |
| 27246070 | Vitamin D in corticosteroid-naïve and corticosteroid-treated Duchenne muscular dystrophy: what dose achieves optimal 25(OH) vitamin D levels? | Arch Dis Child | 2016 |
| 25795284 | Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. | Eur J Paediatr Neurol | 2015 |
| 26293471 | Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome. | Epilepsia | 2015 |
| 25843299 | The value of cardiac MRI versus echocardiography in the pre-operative assessment of patients with Duchenne muscular dystrophy. | Eur J Paediatr Neurol | 2015 |
| 24836964 | Dravet syndrome--from epileptic encephalopathy to channelopathy. | Epilepsia | 2014 |
| 25163687 | Genotype phenotype associations across the voltage-gated sodium channel family. | J Med Genet | 2014 |
| 23163885 | The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy. | Dev Med Child Neurol | 2013 |
| 23725490 | The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies. | Dev Med Child Neurol | 2013 |
| 21460401 | Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome. | Arch Dis Child | 2012 |
| 22719002 | Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. | Brain | 2012 |
| 21248271 | Genotype-phenotype associations in SCN1A-related epilepsies. | Neurology | 2011 |
| 21788225 | Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life. | Pediatrics | 2011 |
| 21961570 | Health-related quality-of-life and behavioural outcome in survivors of childhood meningitis. | Brain Inj | 2011 |
| 21668444 | Comorbidities and predictors of health-related quality of life in Dravet syndrome. | Epilepsia | 2011 |
| 17296234 | Evidence for oxidative stress in the frontal cortex in patients with recurrent depressive disorder--a postmortem study. | Psychiatry Res | 2007 |