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)

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)

2023

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)

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)

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)

Hughes-Mccormack, L. et al. (2022) Rates, causes and predictors of all-cause and avoidable mortality in 163,686 children and young people with and without intellectual disabilities: A record linkage national cohort study. BMJ Open, 12, e061636. (doi: 10.1136/bmjopen-2022-061636) (PMID:36113944) (PMCID:PMC9486341)

2021

Truesdale, M. et al. (2021) Respiratory-associated deaths in people with intellectual disabilities: a systematic review and meta-analysis. BMJ Open, 11(7), e043658. (doi: 10.1136/bmjopen-2020-043658) (PMID:34261677)

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)

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

Symonds, J. D. and Zuberi, S. M. (2018) Genetics update: monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology, 132, pp. 3-19. (doi: 10.1016/j.neuropharm.2017.10.013) (PMID:29037745)

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)

Waak, M. et al. (2017) GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, (doi: 10.1136/jnnp-2017-315653) (PMID:28668776)

Symonds, J. D. et al. (2017) Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), pp. 565-575. (doi: 10.1111/epi.13669) (PMID:28166369)

2015

Symonds, J., Zuberi, S., Wilson, M., Bumke, K., Dorris, L. and Cobbs, G. (2015) A Family with Steroid-responsive Autism. Scottish Paediatric Society St Andrew’s Day Paediatric Symposium, Edinburgh, UK, 27 Nov 2015. NP35. (doi: 10.1177/0036933016639797)

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)

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)

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)

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)

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)

Hughes-Mccormack, L. et al. (2022) Rates, causes and predictors of all-cause and avoidable mortality in 163,686 children and young people with and without intellectual disabilities: A record linkage national cohort study. BMJ Open, 12, e061636. (doi: 10.1136/bmjopen-2022-061636) (PMID:36113944) (PMCID:PMC9486341)

Truesdale, M. et al. (2021) Respiratory-associated deaths in people with intellectual disabilities: a systematic review and meta-analysis. BMJ Open, 11(7), e043658. (doi: 10.1136/bmjopen-2020-043658) (PMID:34261677)

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)

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)

Symonds, J. D. and Zuberi, S. M. (2018) Genetics update: monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology, 132, pp. 3-19. (doi: 10.1016/j.neuropharm.2017.10.013) (PMID:29037745)

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)

Waak, M. et al. (2017) GNAO1-related movement disorder with life-threatening exacerbations: movement phenomenology and response to DBS. Journal of Neurology, Neurosurgery and Psychiatry, (doi: 10.1136/jnnp-2017-315653) (PMID:28668776)

Symonds, J. D. et al. (2017) Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), pp. 565-575. (doi: 10.1111/epi.13669) (PMID:28166369)

Conference or Workshop Item

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)

Symonds, J., Zuberi, S., Wilson, M., Bumke, K., Dorris, L. and Cobbs, G. (2015) A Family with Steroid-responsive Autism. Scottish Paediatric Society St Andrew’s Day Paediatric Symposium, Edinburgh, UK, 27 Nov 2015. NP35. (doi: 10.1177/0036933016639797)