Ms Amy Schneider
Research Fellow
Department of Medicine
74 Scholarly works
1 Projects
HIGHLIGHTS
2024
Research contracts (non-grants)
Genetics of Epilepsy
2021
Journal article
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials
DOI: 10.1111/epi.170152021
Journal article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
DOI: 10.1111/epi.167842020
Journal article
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures
DOI: 10.1111/dmcn.144282020
Journal article
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
DOI: 10.1038/s41431-020-0606-z2018
Journal article
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
DOI: 10.1016/j.ajhg.2018.10.0232018
Journal article
Parental mosaicism in “De Novo” epileptic encephalopathies
DOI: 10.1056/NEJMc1714579
RECENT SCHOLARLY WORKS
2026
Journal article
Associations of Cortical and Subcortical White Matter Morphometric Abnormalities With Clinical and Genetic Findings in STXBP1 Encephalopathy.
DOI: 10.1212/NXG.00000000002004162026
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
DOI: 10.1038/s41588-026-02547-52026
Journal article
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
DOI: 10.1002/ana.780712025
Journal article
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
DOI: 10.1101/2025.09.02.253349232025
Journal article
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathy
DOI: 10.1111/epi.183462025
Journal article
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature
DOI: 10.1111/epi.183152024
Journal article
Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
DOI: 10.1186/s13023-024-03297-52024
Journal article
Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE-SWAS)
DOI: 10.1002/ana.27041