Sarah E. Heron
Adelaide, SA 5005, Australia
Last Updated: 09/26/2026
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Found 27 publications
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Journal: Neurology
Published: September 08, 2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.
Journal: European journal of medical genetics
Published: November 18, 2019
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.
Journal: Human mutation
Published: October 11, 2019
BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
Journal: American journal of medical genetics. Part A
Published: April 29, 2016
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
Journal: Journal of medical genetics
Published: September 09, 2015
Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.
Journal: Neurology
Published: August 07, 2015
Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.
Journal: Annals of neurology
Published: July 03, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Journal: Epilepsia
Published: April 03, 2015
Genetics of epilepsy: The testimony of twins in the molecular era.
Journal: Neurology
Published: August 10, 2014
Last Updated: 09/26/2026