2026

Brunklaus, A. ORCID: https://orcid.org/0000-0002-7728-6903 and SCN1A Horizons Network, . ORCID: https://orcid.org/0000-0002-9502-3154 (2026) SCN1A-Related Epilepsies Across the Lifespan: Baseline Results from the UK National SCN1A-Horizons Natural History Cohort. 2026 BPNA Annual Conference, Glasgow, UK, 28-30 Jan 2026. (doi: 10.1111/dmcn.70117)

2025

Ghanty, Ismael, Perez-Palma, Eduardo, Villaman, Camilo, Stobo, Daniel, Symonds, Joseph, Zuberi, Sameer, Lal, Dennis and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2025) SCN9A should not be considered an epilepsy gene; refuting a gene-disease association. Epilepsia, (doi: 10.1111/epi.18474) (Early Online Publication)

Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Schubert‐Bast, Susanne, Darra, Francesca, Nickels, Katherine, Breuillard, Delphine, Giuffrida, Andrea, Eldred, Claire, Flege, Silke, Cardenal‐Muñoz, Elena and Sánchez‐Carpintero, Rocío (2025) Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus. Epilepsia Open, 10(2), pp. 450-465. (doi: 10.1002/epi4.13127) (PMID:39891606) (PMCID:PMC12014930)

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Symonds, Joseph D., Zuberi, Sameer M., Finch, Teresa, Wilson, Galia and Eldred, Claire (2025) Trauma, coping, and adjustment when parenting a child with Dravet syndrome. European Journal of Paediatric Neurology, 54, pp. 96-106. (doi: 10.1016/j.ejpn.2025.01.002)

2024

Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Autism and attention-deficit/hyperactivity disorder in Dravet syndrome. Developmental Medicine and Child Neurology, 66(11), pp. 1402-1403. (doi: 10.1111/dmcn.15978) (PMID:38840369)

Freeman-Jones, Erin, Wilson, Galia, Eldred, Claire, Mercier, Anthony, Hendry, Kirsty, Swindler, Adriana, Symonds, Joseph D., Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, 53, pp. 138-143. (doi: 10.1016/j.ejpn.2024.10.010) (PMID:39509951)

Symonds, J. et al. (2024) POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia. Epilepsia, 65(11), pp. 3303-3323. (doi: 10.1111/epi.18115) (PMID:39348199)

Gallagher, D. et al. (2024) Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies. Epilepsia, 65(4), pp. 1046-1059. (doi: 10.1111/epi.17882) (PMID:38410936)

Bhattarai, N. et al. (2024) Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants. Biophysical Society 68th Annual Meeting, Philadelphia, Pennsylvania, USA, 10-14 Feb 2024. 109a-110a. (doi: 10.1016/j.bpj.2023.11.779)

Perry, M. S. et al. (2024) 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, 65(2), pp. 322-337. (doi: 10.1111/epi.17850) (PMID:38049202)

Feng, Tony, Makiello, Phoebe, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph D. ORCID: https://orcid.org/0000-0002-2141-4216, Zuberi, Sameer, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome. Brain Communications, 6(1), fcae004. (doi: 10.1093/braincomms/fcae004) (PMID:38229878) (PMCID:PMC10789590)

2023

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, 146(9), pp. 3885-3897. (doi: 10.1093/brain/awad111) (PMID:37006128) (PMCID:PMC10473570)

Makiello, Phoebe, Feng, Tony, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph, Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, 64(4), pp. 1012-1020. (doi: 10.1111/epi.17531) (PMID:36740581)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Daly, Mark J., Campbell, Arthur J., Hoksza, David, May, Patrick and Lal, Dennis (2023) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146(2), pp. 519-533. (doi: 10.1093/brain/awac381) (PMID:36256779) (PMCID:PMC9924913)

2022

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, Amy, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Barcia, Giulia, Varadkar, Sophia, Zuberi, Sameer M., Chatron, Nicolas, Parrini, Elena, Mei, Davide, Nabbout, Rima and Lesca, Gaetan (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

2021

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

2020

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

Brunklaus, Andreas (2020) Knowing when and how to use epilepsy screening questionnaires. Epilepsia, 61(4), p. 825. (doi: 10.1111/epi.16462) (PMID:32115692)

2019

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

2018

Zuberi, Sameer M. and Brunklaus, Andreas (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)

2017

Steel, Dora, Symonds, Joseph D., Zuberi, Sameer M. and Brunklaus, Andreas (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Articles

Ghanty, Ismael, Perez-Palma, Eduardo, Villaman, Camilo, Stobo, Daniel, Symonds, Joseph, Zuberi, Sameer, Lal, Dennis and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2025) SCN9A should not be considered an epilepsy gene; refuting a gene-disease association. Epilepsia, (doi: 10.1111/epi.18474) (Early Online Publication)

Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Schubert‐Bast, Susanne, Darra, Francesca, Nickels, Katherine, Breuillard, Delphine, Giuffrida, Andrea, Eldred, Claire, Flege, Silke, Cardenal‐Muñoz, Elena and Sánchez‐Carpintero, Rocío (2025) Communicating a diagnosis of Dravet syndrome to parents/caregivers: An international Delphi consensus. Epilepsia Open, 10(2), pp. 450-465. (doi: 10.1002/epi4.13127) (PMID:39891606) (PMCID:PMC12014930)

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Symonds, Joseph D., Zuberi, Sameer M., Finch, Teresa, Wilson, Galia and Eldred, Claire (2025) Trauma, coping, and adjustment when parenting a child with Dravet syndrome. European Journal of Paediatric Neurology, 54, pp. 96-106. (doi: 10.1016/j.ejpn.2025.01.002)

Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Autism and attention-deficit/hyperactivity disorder in Dravet syndrome. Developmental Medicine and Child Neurology, 66(11), pp. 1402-1403. (doi: 10.1111/dmcn.15978) (PMID:38840369)

Freeman-Jones, Erin, Wilson, Galia, Eldred, Claire, Mercier, Anthony, Hendry, Kirsty, Swindler, Adriana, Symonds, Joseph D., Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, 53, pp. 138-143. (doi: 10.1016/j.ejpn.2024.10.010) (PMID:39509951)

Symonds, J. et al. (2024) POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia. Epilepsia, 65(11), pp. 3303-3323. (doi: 10.1111/epi.18115) (PMID:39348199)

Gallagher, D. et al. (2024) Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies. Epilepsia, 65(4), pp. 1046-1059. (doi: 10.1111/epi.17882) (PMID:38410936)

Perry, M. S. et al. (2024) 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, 65(2), pp. 322-337. (doi: 10.1111/epi.17850) (PMID:38049202)

Feng, Tony, Makiello, Phoebe, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph D. ORCID: https://orcid.org/0000-0002-2141-4216, Zuberi, Sameer, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2024) Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome. Brain Communications, 6(1), fcae004. (doi: 10.1093/braincomms/fcae004) (PMID:38229878) (PMCID:PMC10789590)

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, 146(9), pp. 3885-3897. (doi: 10.1093/brain/awad111) (PMID:37006128) (PMCID:PMC10473570)

Makiello, Phoebe, Feng, Tony, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph, Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903 (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, 64(4), pp. 1012-1020. (doi: 10.1111/epi.17531) (PMID:36740581)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

Iqbal, Sumaiya, Brünger, Tobias, Pérez-Palma, Eduardo, Macnee, Marie, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Daly, Mark J., Campbell, Arthur J., Hoksza, David, May, Patrick and Lal, Dennis (2023) Delineation of functionally essential protein regions for 242 neurodevelopmental genes. Brain, 146(2), pp. 519-533. (doi: 10.1093/brain/awac381) (PMID:36256779) (PMCID:PMC9924913)

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, Amy, Brunklaus, Andreas ORCID: https://orcid.org/0000-0002-7728-6903, Barcia, Giulia, Varadkar, Sophia, Zuberi, Sameer M., Chatron, Nicolas, Parrini, Elena, Mei, Davide, Nabbout, Rima and Lesca, Gaetan (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

Brunklaus, Andreas (2020) Knowing when and how to use epilepsy screening questionnaires. Epilepsia, 61(4), p. 825. (doi: 10.1111/epi.16462) (PMID:32115692)

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

Zuberi, Sameer M. and Brunklaus, Andreas (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Steel, Dora, Symonds, Joseph D., Zuberi, Sameer M. and Brunklaus, Andreas (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Conference or Workshop Item

Brunklaus, A. ORCID: https://orcid.org/0000-0002-7728-6903 and SCN1A Horizons Network, . ORCID: https://orcid.org/0000-0002-9502-3154 (2026) SCN1A-Related Epilepsies Across the Lifespan: Baseline Results from the UK National SCN1A-Horizons Natural History Cohort. 2026 BPNA Annual Conference, Glasgow, UK, 28-30 Jan 2026. (doi: 10.1111/dmcn.70117)

Bhattarai, N. et al. (2024) Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants. Biophysical Society 68th Annual Meeting, Philadelphia, Pennsylvania, USA, 10-14 Feb 2024. 109a-110a. (doi: 10.1016/j.bpj.2023.11.779)

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)