David J. Smith-Lewis

Bristol, ENG BS105NB, United Kingdom

Last Updated: 09/26/2026

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Found 35 publications

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2025

Driving after vagus nerve stimulation therapy: Is it possible?

Driving after vagus nerve stimulation therapy: Is it possible?

Journal: Epilepsia open

Published: June 30, 2025

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders.

Journal: bioRxiv : the preprint server for biology

Published: March 31, 2025

Building a dashboard to inform policy and clinical practice using the Irish epilepsy electronic patient record: Towards a learning health system.

Building a dashboard to inform policy and clinical practice using the Irish epilepsy electronic patient record: Towards a learning health system.

Journal: Epilepsia open

Published: February 27, 2025

Super-rapid titration of vagus nerve stimulation in a patient with DEPDC5-related drug-resistant epilepsy.

Super-rapid titration of vagus nerve stimulation in a patient with DEPDC5-related drug-resistant epilepsy.

Journal: Seizure

Published: February 25, 2025

The natural history of CDKL5 deficiency disorder into adulthood.

The natural history of CDKL5 deficiency disorder into adulthood.

Journal: medRxiv : the preprint server for health sciences

Published: January 27, 2025

Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.

Clinical signatures of genetic epilepsies precede diagnosis in electronic medical records of 32,000 individuals.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 10, 2023

The Human Phenotype Ontology in 2024: phenotypes around the world.

The Human Phenotype Ontology in 2024: phenotypes around the world.

Journal: Nucleic acids research

Published: September 13, 2023

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.

Journal: medRxiv : the preprint server for health sciences

Published: July 28, 2023

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.

Journal: Med (New York, N.Y.)

Published: July 13, 2023

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Journal: medRxiv : the preprint server for health sciences

Published: March 03, 2023

Autoimmune musicogenic bilateral temporal lobe epilepsy

Autoimmune musicogenic bilateral temporal lobe epilepsy

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: September 19, 2022

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Last Updated: 09/26/2026