Publications by authors named "Joseph D 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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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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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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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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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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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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Corrigendum to "Epilepsy and developmental disorders: Next generation sequencing in the clinic" [Eur. J. Paediatr. Neurol. (2019) 15-23].
Joseph D Symonds, Amy McTague

Eur J Paediatr Neurol· January 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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CHD2 epilepsy: epigenetics and the quest for precision medicine.
Joseph D Symonds

Dev Med Child Neurol· May 2020

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Biological concepts in human sodium channel epilepsies and their relevance in clinical practice.
Andreas Brunklaus, Juanjiangmeng Du, Felix Steckler, Ismael I Ghanty, Katrine M Johannesen, Joseph D Symonds

Epilepsia· March 2020

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SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Andreas Brunklaus, Stephanie Schorge, Alexander D Smith, Ismael Ghanty, Kirsty Stewart, Joseph D Symonds

Hum Mutat· February 2020

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Epilepsy and developmental disorders: Next generation sequencing in the clinic.
Joseph D Symonds, Amy McTague

Eur J Paediatr Neurol· January 2020

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Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.
Joseph D Symonds, Sameer M Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O'Regan

Brain· August 2019

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