2024

Freeman-Jones, E., Wilson, G., Eldred, C., Mercier, A., Hendry, K., Swindler, A., Symonds, J. D., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, (doi: 10.1016/j.ejpn.2024.10.010) (Early Online Publication)

Symonds, J. et al. (2024) POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia. Epilepsia, (doi: 10.1111/epi.18115) (PMID:39348199) (Early Online Publication)

Brunklaus, A. (2024) Autism and attention‐deficit/hyperactivity disorder in Dravet syndrome. Developmental Medicine and Child Neurology, (doi: 10.1111/dmcn.15937) (PMID:38840369) (Early Online Publication)

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, T., Makiello, P., Dunwoody, B., Steckler, F., Symonds, J. D. , Zuberi, S., Dorris, L. and Brunklaus, A. (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, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (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, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (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, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (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, A. (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, S. M. and Brunklaus, A. (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, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Articles

Freeman-Jones, E., Wilson, G., Eldred, C., Mercier, A., Hendry, K., Swindler, A., Symonds, J. D., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, (doi: 10.1016/j.ejpn.2024.10.010) (Early Online Publication)

Symonds, J. et al. (2024) POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia. Epilepsia, (doi: 10.1111/epi.18115) (PMID:39348199) (Early Online Publication)

Brunklaus, A. (2024) Autism and attention‐deficit/hyperactivity disorder in Dravet syndrome. Developmental Medicine and Child Neurology, (doi: 10.1111/dmcn.15937) (PMID:38840369) (Early Online Publication)

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, T., Makiello, P., Dunwoody, B., Steckler, F., Symonds, J. D. , Zuberi, S., Dorris, L. and Brunklaus, A. (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, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (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, S., Brünger, T., Pérez-Palma, E., Macnee, M., Brunklaus, A., Daly, M. J., Campbell, A. J., Hoksza, D., May, P. and Lal, D. (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, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (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, A. (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, S. M. and Brunklaus, A. (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, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (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

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)