Publications by authors named "Joseph Symonds"

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Artificial intelligence and genomics in paediatric neurology: Promise, pitfalls, and the importance of clinical judgement.
Andreas Brunklaus, Joseph D Symonds

Dev Med Child Neurol· January 2026

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SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.
Ismael Ghanty, Eduardo Perez-Palma, Camilo Villaman, Daniel Stobo, Joseph Symonds

Epilepsia· September 2025

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Novel biallelic variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.
Loisa Dana Bonde, Laura Hecher, Malik Alawi, Kirsten P Forbes, Joseph D Symonds

J Med Genet· July 2025

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SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
Christy W LaFlamme, Karim Karimi, Cassandra Rastin, Edith P Almanza Fuerte, Talia Allan, Joseph D Symonds

Epilepsia· April 2025

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Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karim Karimi, Yael Lichtenstein, Jack Reilly, Haley McConkey, Raissa Relator, Joseph D Symonds

Am J Hum Genet· February 2025

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Trauma, coping, and adjustment when parenting a child with Dravet syndrome.
Anthony Mercier, Liam Dorris, Andreas Brunklaus, Joseph D Symonds, Sameer M Zuberi

Eur J Paediatr Neurol· January 2025

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Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).
Sindhu Viswanathan, Karen L Oliver, Brigid M Regan, Amy L Schneider, Candace T Myers, Joseph D Symonds

Ann Neurol· November 2024

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong

Epilepsia· November 2024

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Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire study.
Erin Freeman-Jones, Galia Wilson, Claire Eldred, Anthony Mercier, Kirsty Hendry, Joseph D Symonds

Eur J Paediatr Neurol· November 2024

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Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Declan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, Ismael Ghanty, Eva Brilstra, Joseph D Symonds

Epilepsia· April 2024

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Long-term predictors of developmental outcome and disease burden in -positive Dravet syndrome.
Tony Feng, Phoebe Makiello, Benjamin Dunwoody, Felix Steckler, Joseph D Symonds

Brain Commun· January 2024

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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Kelly Smallwood, Kristin E N Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Joseph D Symonds

Am J Hum Genet· May 2023

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Comorbidities and predictors of health-related quality of life in Dravet syndrome: A 10-year, prospective follow-up study.
Phoebe Makiello, Tony Feng, Benjamin Dunwoody, Felix Steckler, Joseph Symonds

Epilepsia· April 2023

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Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.
Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci, Michael Nothnagel, Rikke S Møller, Joseph Symonds

Brain· March 2023

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Andreas Brunklaus, Tony Feng, Tobias Brünger, Eduardo Perez-Palma, Henrike Heyne, Joseph D Symonds

Brain· December 2022

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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Andreas Brunklaus, Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Joseph Symonds

Brain· November 2022

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GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Joseph D Symonds

J Clin Invest· October 2022

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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.
Laura Anne Hughes-McCormack, Ewelina Rydzewska, Sally-Ann Cooper, Michael Fleming, Daniel Mackay, Joseph D Symonds

BMJ Open· September 2022

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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Salima El Chehadeh, Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Joseph Symonds

Nat Commun· July 2022

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Development and Validation of a Prediction Model for Early Diagnosis of -Related Epilepsies.
Andreas Brunklaus, Eduardo Pérez-Palma, Ismael Ghanty, Ji Xinge, Eva Brilstra, Joseph D Symonds

Neurology· March 2022

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Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants.
Joseph D Symonds, Katherine S Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus

Brain· October 2021

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Respiratory-associated deaths in people with intellectual disabilities: a systematic review and meta-analysis.
Maria Truesdale, Craig Melville, Fiona Barlow, Kirsty Dunn, Angela Henderson, Joseph Symonds

BMJ Open· July 2021

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique R M Vlaskamp, Birgitte Bertelsen, Joseph D Symonds

Genet Med· February 2021

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Infantile spasms: Etiology, lead time and treatment response in a resource limited setting.
Priyanka Surana, Joseph D Symonds, Prabhar Srivastava, Thenral S Geetha, Romit Jain

Epilepsy Behav Rep· October 2020

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Neuronal antibody prevalence in children with seizures under 3 years: A prospective national cohort.
Joseph D Symonds, Teresa C Moloney, Bethan Lang, Ailsa McLellan, Mary E O'Regan

Neurology· September 2020

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