Joseph Symonds

12PUBLICATIONS
40CO-AUTHORS
Optical technologySensory systemsEpigenetics (incl. genome methylation and epigenomics)NeurogeneticsNeurology and neuromuscular diseases
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Publications (12)

|Apr 27, 2026
Elicited Repetitive Daily Blindness Associated With Gain-of-Function SCN1A Variants and Responsiveness to Sodium Channel Blockers.

|Jun 10, 2025
SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

Ismael Ghanty, Eduardo Perez-Palma, Camilo Villaman

|Feb 11, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.

Christy W LaFlamme, Karim Karimi, Cassandra Rastin

|Sep 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.

Joseph D Symonds, Kristen L Park, Cyril Mignot

|Jan 17, 2024
Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome.

Tony Feng, Phoebe Makiello, Benjamin Dunwoody

|Aug 29, 2022
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes.

Tobias Brünger, Eduardo Pérez-Palma, Ludovica Montanucci

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Frequent Collaborators

8 joint publications

Andreas Brunklaus

6 joint publications

Sameer Zuberi

2 joint publications

Dennis Lal

2 joint publications

Eduardo Pérez-Palma