Joseph D. Symonds

Glasgow, SCT G128TB, United Kingdom

Last Updated: 09/26/2026

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Found 49 publications

What is the psychological impact on parents of learning about SUDEP? A mixed methods systematic review.

What is the psychological impact on parents of learning about SUDEP? A mixed methods systematic review.

Journal: Epilepsy & behavior : E&B

Published: December 01, 2025

Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers.

Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers.

Journal: Neurology. Genetics

Published: October 16, 2025

Artificial intelligence and genomics in paediatric neurology: Promise, pitfalls, and the importance of clinical judgement.

Artificial intelligence and genomics in paediatric neurology: Promise, pitfalls, and the importance of clinical judgement.

Journal: Developmental medicine and child neurology

Published: September 15, 2025

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

Journal: Epilepsia

Published: February 23, 2025

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Journal: Journal of medical genetics

Published: January 24, 2025

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Journal: Epilepsia

Published: December 17, 2024

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Trauma, coping, and adjustment when parenting a child with Dravet syndrome.

Trauma, coping, and adjustment when parenting a child with Dravet syndrome.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 12, 2024

Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire study.

Caregiver burden and therapeutic needs in Dravet syndrome - A national UK cross-sectional questionnaire study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: July 06, 2024

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Journal: Epilepsia

Published: March 29, 2024

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Journal: Annals of neurology

Published: February 23, 2024

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

Journal: Epilepsia

Published: September 17, 2023

Showing 1-12 of 49

Last Updated: 09/26/2026