2025

Bonde, Loisa Dana, Hecher, Laura, Alawi, Malik, Forbes, Kirsten P., Symonds, Joseph D., Hamilton, Mark J. and Kutsche, Kerstin (2025) Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations. Journal of Medical Genetics, 62(8), pp. 497-501. (doi: 10.1136/jmg-2025-110671) (PMID:40350250)

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

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas, 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

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 (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)

2023

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 (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, Joseph D. and Zuberi, Sameer 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, 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)

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, Joe, Zuberi, Sameer, Wilson, Margaret, Bumke, Kerstin, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Cobbs, Gavin (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

Bonde, Loisa Dana, Hecher, Laura, Alawi, Malik, Forbes, Kirsten P., Symonds, Joseph D., Hamilton, Mark J. and Kutsche, Kerstin (2025) Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations. Journal of Medical Genetics, 62(8), pp. 497-501. (doi: 10.1136/jmg-2025-110671) (PMID:40350250)

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

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas, 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)

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 (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)

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 (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, Joseph D. and Zuberi, Sameer 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, 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)

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, Joe, Zuberi, Sameer, Wilson, Margaret, Bumke, Kerstin, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Cobbs, Gavin (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)