Prof Sam Berkovic
Melbourne Laureate Professor Emeritus
Department of Medicine
1135 Scholarly works
69 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
Mortality in two independent First Seizure Clinic cohorts up to 20 years post epilepsy diagnosis
DOI: 10.1016/j.yebeh.2026.1112572026
Journal article
Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy.
DOI: 10.1002/epi.704442026
Journal article
Somatic mosaicism in hypothalamic hamartoma
DOI: 10.1016/j.gde.2026.1024852026
Journal article
International Consensus on the Evaluation and Management of Hypothalamic Hamartomas
DOI: 10.1212/WNL.00000000002147602026
Journal article
Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants
DOI: 10.1002/epi.700962026
Journal article
Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive
DOI: 10.1172/JCI1933642026
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
Transcription Factor Binding and Individual Genetic Risk of Valproate Teratogenicity
DOI: 10.1212/WNL.0000000000214570