Publications by authors named "Samuel Berkovic"

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Epilepsy concordance in monozygotic twins: the role of common genetic variants.
Yew Li Dang, Karen L Oliver, Kate Esnault, Melanie Bahlo, Piero Perucca, Samuel F Berkovic

Brain· January 2026

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Bilateral frontal periventricular nodular heterotopia: a distinctive cortical malformation.
Ine Hoogwijs, Simone A Mandelstam, George McGillivray, Benjamin J Halliday, Eppie M Yiu, Samuel F Berkovic

Eur J Paediatr Neurol· December 2025

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Twins with temporal lobe epilepsy: genetic contributions to hippocampal sclerosis and other subtypes.
Yew Li Dang, Kate Esnault, Gregory Fitt, Terence J O'Brien, Graeme D Jackson, Samuel F Berkovic

Brain· November 2025

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Integrative Deep Learning of Genomic and Clinical Data for Predicting Treatment Response in Newly Diagnosed Epilepsy.
Wei Feng, Duong Nhu, Alison Anderson, Daniel Thom, Sarah N Barnard, Samuel F Berkovic

Neurology· November 2025

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Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
Annie T G Chiu, Mark F Bennett, Harshini Thiyagarajah, Amy L Schneider, Sian M W Macdonald, Samuel F Berkovic

Ann Neurol· November 2025

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Novel, complex configurations of the repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.
Mark F Bennett, Mark A Corbett, Thessa Kroes, Laura Canafoglia, Karen L Oliver, Samuel F Berkovic

Brain Commun· November 2025

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Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.
Katrine M Johannesen, Khaing Phyu Aung, Vivian Wy Liao, Nathan L Absalom, Han C Chua, Samuel F Berkovic

J Clin Invest· November 2025

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Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia.
Breana Galea, Joshua Reid, Samuel Gooley, Tom Witkowski, Tara Lane, Samuel F Berkovic

medRxiv· November 2025

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Is there really evidence for neurodegeneration in Dravet syndrome? Commentary on the publication by Selvarajah et al.
Sanjay M Sisodiya, Simona Balestrini, Samuel F Berkovic, Kailash P Bhatia, Lisa M Clayton

Epilepsia· October 2025

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Toxoplasma gondii seropositivity as a risk factor for epilepsy: A discordant monozygotic twin study.
Yew Li Dang, Kate Esnault, Marcel J Leroi, Piero Perucca, Samuel F Berkovic

Epilepsy Behav· September 2025

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Atenolol rescues premature mortality in genetic mouse models of sudden unexpected death in epilepsy.
Ming S Soh, Amanda Hu, Alibek Kuanyshbek, Erlina S Mohamed Syazwan, Hian M Lee, Samuel F Berkovic

Epilepsia· September 2025

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SUDEP risk is influenced by longevity genomics: a polygenic risk score study.
Helena Martins, James D Mills, Susanna Pagni, Medine I Gulcebi, Angeliki Vakrinou, Samuel F Berkovic

EBioMedicine· August 2025

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Sleep-related hypermotor epilepsy-No longer controversial.
Francesca Bisulli, Samuel F Berkovic, Ingrid E Scheffer, Edouard Hirsch, Lino Nobili

Epilepsia· July 2025

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Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants.
Neblina Sikta, Samuel Gooley, Timothy E Green, Olivia Hoeper, Tom Witkowski, Samuel F Berkovic

Hum Mol Genet· July 2025

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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Alessandra Rossi, Susan X N Lin, Nathan L Absalom, Sebastian Ortiz-De la Rosa, Vivian W Y Liao, Samuel F Berkovic

Neurology· July 2025

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Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.
Colin A Ellis, Ruth Ottman, Michael P Epstein, , Samuel F Berkovic

Epilepsia· June 2025

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Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.
Erandee Robertson, Bronwyn E Grinton, Karen L Oliver, Liam G Fearnley, Michael S Hildebrand, Samuel F Berkovic

NAR Genom Bioinform· June 2025

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Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.
Jillian M Cameron, Remika Mito, Samuel F Berkovic, Graeme D Jackson

Ann Clin Transl Neurol· June 2025

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Genome-wide association meta-analyses of drug-resistant epilepsy.
Costin Leu, Andreja Avbersek, Remi Stevelink, Helena Martins Custodio, Siwei Chen, Samuel F Berkovic

EBioMedicine· May 2025

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Precision therapies for genetic epilepsies in 2025: Promises and pitfalls.
Shuyu Wang, Emilio Perucca, Samuel F Berkovic, Piero Perucca

Epilepsia Open· May 2025

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PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.
Antonio Gambardella, Yu-Chi Liu, Mark F Bennett, Timothy E Green, John A Damiano, Samuel F Berkovic

Epilepsia Open· April 2025

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Sex-Specific Patterns of Reproduction in People With Epilepsy: A Nationwide Cohort Study From Denmark.
Josefine Klakk, Betina B Trabjerg, Samuel F Berkovic, Chris Cotsapas, Churl-Su Kwon

Neurology· April 2025

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Strong diagnostic performance of plasma ptau217 for CSF biomarker-defined young-onset Alzheimer disease in a diagnostically heterogeneous clinical cohort.
Dhamidhu Eratne, Qiao-Xin Li, Courtney Lewis, Christa Dang, Matthew J Y Kang, Samuel F Berkovic

J Neurol· December 2024

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Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting.
Dhamidhu Eratne, Matthew J Y Kang, Courtney Lewis, Christa Dang, Charles B Malpas, Samuel F Berkovic

Alzheimers Dement· November 2024

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Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Karen L Oliver, Ingrid E Scheffer, Colin A Ellis, Bronwyn E Grinton, , Samuel F Berkovic

EBioMedicine· November 2024

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