Katherine B Howell

17PUBLICATIONS
128CO-AUTHORS
Neurology and neuromuscular diseasesOther European languagesEvolutionary computationInfant and child healthNeurogenetics
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Publications (17)

|Sep 18, 2026
Neuroradiologic Findings in Patients With SCN2A Disease: A Systematic Review and Retrospective Multicenter Cohort Study.

|Jul 03, 2026
Late-onset epileptic spasms: presentation, aetiology and outcome.

|Jun 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scale.

|May 04, 2026
KCNQ2 neonatal epilepsy: Impact of prompt diagnosis and treatment, and early predictors of outcome severity.

|Feb 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

|Feb 05, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Marsha Tan, Beatrice Southby Goad, Meagan Allen

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Frequent Collaborators

7 joint publications

Ingrid Scheffer

5 joint publications

Richard Leventer

4 joint publications

Rikke Steensbjerre Møller

4 joint publications

Emma Macdonald-Laurs