Stephen Malone
Children's Health Queensland Hospital and Health Service(AU)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Ion channel regulation and function, Neonatal and fetal brain pathology
Most-Cited Works
- → Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1(2013)686 cited
- → SYNGAP1 encephalopathy(2018)209 cited
- → Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome(2015)125 cited
- → Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy(2015)84 cited
- → Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain(2021)74 cited
- → Isolated seizures during the first episode of relapsing myelin oligodendrocyte glycoprotein antibody‐associated demyelination in children(2018)68 cited
- → Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45(2017)59 cited
- → Childbirth in Cross-Cultural Perspective(1988)43 cited
- → International consensus definitions for infection‐triggered encephalopathy syndromes(2024)42 cited
- → Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome(2018)36 cited