Prof Sam Berkovic
Honorary Clinical Professor
Department of Medicine
1125 Scholarly works
65 Projects
HIGHLIGHTS
2022
Research Grant
"Integrative-Omics" for Precision Medicine in the Epilepsies
2022
Research grants (ARC, NHMRC, MRFF)
"Integrative-Omics" for Precision Medicine in the Epilepsies
2021
Research grants (ARC, NHMRC, MRFF)
Genetics of Epilepsy: Completing Our Understanding
2020
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/NEJMc17145792016
Journal article
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
DOI: 10.1016/j.ajhg.2016.06.003
RECENT SCHOLARLY WORKS
2026
Journal article
Delay to diagnosis of epilepsy: A history of a psychiatric disorder and substance use is associated with prior seizures
DOI: 10.1016/j.yebeh.2025.1108642026
Journal article
Epilepsy concordance in monozygotic twins: the role of common genetic variants
DOI: 10.1093/brain/awaf3622026
Journal article
International Consensus on the Evaluation and Management of Hypothalamic Hamartomas
DOI: 10.1212/WNL.00000000002147602026
Journal article
Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy
DOI: 10.1002/ana.780712026
Journal article
Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy
DOI: 10.1111/epi.186422025
Journal article
Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes
DOI: 10.1093/brain/awaf2092025
Journal article
Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
DOI: 10.1111/epi.185822025
Journal article
Toxoplasma gondii seropositivity as a risk factor for epilepsy: A discordant monozygotic twin study
DOI: 10.1016/j.yebeh.2025.110492