Investigating the Genetic Contribution to the Focal Epilepsies

Lamotrigine as an antiseizure medication in pregnancy

FJE Vajda, TJ O’Brien, JE Graham, AE Hitchcock, P Perucca, CM Lander, MJ Eadie

2026-03-01

Aim To try to ascertain in APR data why lamotrigine was the preferred ASM in treating women with epilepsy, Method Statistical anal..

Amygdala enlargement in temporal lobe epilepsy: Histopathology and surgical outcomes

L Shakhatreh, B Sinclair, C McLean, E Lui, AP Morokoff, JA King, Z Chen, P Perucca, TJ O'Brien, P Kwan

2024-06-01

Objectives: Amygdala enlargement is detected on magnetic resonance imaging (MRI) in some patients with drug-resistant temporal lob..

Pregnancy, antiseizure medications and unexplained intrauterine foetal death

Frank JE Vajda, Terence J O'Brien, Janet E Graham, Alison E Hitchcock, Piero Perucca, Cecilie M Lander, Mervyn J Eadie

2024-04-01

Objective: To assess the role of antiseizure medication (ASM) regimens and other factors in relation to the occurrence of intraute..

Teratogenicity of zonisamide and other little-used antiseizure medications

FJE Vajda, TJ O'Brien, JE Graham, AA Hitchcock, P Perucca, CM Lander, MJ Eadie

2024-04-01

Purpose: To investigate the risk of teratogenesis occurring in relation to intrauterine exposure to infrequently used antiseizure ..

The teratogenesis risk associated with antiseizure medication duotherapy in women with epilepsy

Frank JE Vajda, Terence J O'Brien, Janet E GRAHAM, Alison A Hitchcock, Piero Perucca, Cecilie M Lander, Mervyn J Eadie

2024-02-01

Purpose: To investigate rates of occurrence of pregnancies associated with a foetal malformation (FM pregnancy rates) following si..

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

RV Harris, KL Oliver, P Perucca, P Striano, A Labate, A Riva, BE Grinton, J Reid, J Hutton, M Todaro, TJ O'Brien, P Kwan, LG Sadleir, SA Mullen, E Dazzo, DE Crompton, IE Scheffer, M Bahlo, C Nobile, A Gambardella

2023-11-01

Objective: Familial mesial temporal lobe epilepsy (FMTLE) is an important focal epilepsy syndrome; its molecular genetic basis is ..

Inherent Susceptibility to Acquired Epilepsy in Selectively Bred Rats Influences the Acute Response to Traumatic Brain Injury

WL Leung, LK Dill, P Perucca, TJ O’Brien, PM Casillas-Espinosa, BD Semple

2023-10-01

Traumatic brain injury (TBI) often causes seizures associated with a neuroinflammatory response and neurodegeneration. TBI respons..

EEG datasets for seizure detection and prediction— A review

S Wong, A Simmons, J Rivera-Villicana, S Barnett, S Sivathamboo, P Perucca, Z Ge, P Kwan, L Kuhlmann, R Vasa, K Mouzakis, TJ O'Brien

2023-06-01

Electroencephalogram (EEG) datasets from epilepsy patients have been used to develop seizure detection and prediction algorithms u..

Risk of sudden unexpected death in epilepsy (SUDEP) with lamotrigine and other sodium channel-modulating antiseizure medications

R Nightscales, S Barnard, J Laze, Z Chen, G Tao, C Auvrez, S Sivathamboo, MJ Cook, P Kwan, D Friedman, SF Berkovic, W D'Souza, P Perucca, O Devinsky, TJ O'Brien

2023-06-01

Objective: In vitro data prompted U.S Food and Drug Administration warnings that lamotrigine, a common sodium channel modulating a..

Ocular motility as a measure of cerebral dysfunction in adults with focal epilepsy

HM Au Yong, M Clough, P Perucca, CB Malpas, P Kwan, TJ O'Brien, J Fielding

2023-04-01

Objective: Using objective oculomotor measures, we aimed to: (1) compare oculomotor performance in patients with drug-resistant fo..

Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy

P Perucca, K Stanley, N Harris, AM McIntosh, AA Asadi-Pooya, MA Mikati, DM Andrade, P Dugan, C Depondt, H Choi, EL Heinzen, GL Cavalleri, RJ Buono, O Devinsky, MR Sperling, SF Berkovic, N Delanty, DB Goldstein, TJ O'Brien, A Sen

2023-04-01

Objective: Genetic factors have long been debated as a cause of failure of surgery for mesial temporal lobe epilepsy (MTLE). We in..

Cardiac structural and functional abnormalities in epilepsy: A systematic review and meta-analysis

Z Liu, P Thergarajan, A Antonic-Baker, Z Chen, PB Sparks, NA Lannin, P Kwan, NC Jones, PM Casillas-Espinosa, P Perucca, TJ O'Brien, S Sivathamboo

2023-03-01

Objective: Epilepsy is associated with an increased risk of cardiovascular disease and mortality. Whether cardiac structure and fu..

Automated Interictal Epileptiform Discharge Detection from Scalp EEG Using Scalable Time-series Classification Approaches

D Nhu, M Janmohamed, L Shakhatreh, O Gonen, P Perucca, A Gilligan, P Kwan, TJ O’Brien, CW Tan, L Kuhlmann

2023-01-01

Deep learning for automated interictal epileptiform discharge (IED) detection has been topical with many published papers in recen..

Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings

D Eratne, SM Loi, QX Li, C Stehmann, CB Malpas, A Santillo, S Janelidze, C Cadwallader, N Walia, B Ney, V Lewis, M Senesi, C Fowler, A McGlade, S Varghese, P Ravanfar, W Kelso, S Farrand, M Keem, M Kang

2022-11-01

Introduction: Many patients with cognitive and neuropsychiatric symptoms face diagnostic delay and misdiagnosis. We investigated w..

Delineating the epileptogenic zone: spikes versus oscillations

P Perucca, J Gotman

2022-11-01

Progress report on new antiepileptic drugs: A summary of the Sixteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVI): I. Drugs in preclinical and early clinical development

M Bialer, SI Johannessen, MJ Koepp, RH Levy, E Perucca, P Perucca, T Tomson, HS White

2022-11-01

The Eilat Conferences have provided a forum for discussion of novel treatments of epilepsy among basic and clinical scientists, cl..

Progress report on new antiepileptic drugs: A summary of the Sixteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVI): II. Drugs in more advanced clinical development

M Bialer, SI Johannessen, MJ Koepp, RH Levy, E Perucca, P Perucca, T Tomson, HS White

2022-11-01

The Sixteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVI) was held in Madrid, Spain on May 22–25, 2022 and..

Seizure control in successive pregnancies in Australian women with epilepsy

FJE Vajda, TJ O'Brien, J Graham, AA Hitchcock, P Perucca, CM Lander, MJ Eadie

2022-11-01

Objectives: To investigate control of epileptic seizures during pairs of successive pregnancies in antiseizure medication (ASM)-tr..

Association of Neurocritical Care Services with Mortality and Functional Outcomes for Adults with Brain Injury: A Systematic Review and Meta-analysis

X Pham, J Ray, AS Neto, J Laing, P Perucca, P Kwan, TJ O'Brien, AA Udy

2022-10-01

Importance: Neurocritical care (NCC) aims to improve the outcomes of critically ill patients with brain injury, although the benef..

Deep learning for automated epileptiform discharge detection from scalp EEG: A systematic review

D Nhu, M Janmohamed, A Antonic-Baker, P Perucca, TJ O’Brien, AK Gilligan, P Kwan, CW Tan, L Kuhlmann

2022-10-01

Automated interictal epileptiform discharge (IED) detection has been widely studied, with machine learning methods at the forefron..

Fetal malformations in successive pregnancies in Australian women with epilepsy

F Vajda, T O'Brien, J Graham, A Hitchcock, P Perucca, C Lander, M Eadie

2022-09-01

Objectives: To utilize data from the Australian Register of Antiepileptic Drugs in Pregnancy (APR) to determine the hazard of feta..

Neurological factors and Cesarean section in Australian women with epilepsy

FJE Vajda, TJ O'Brien, JE Graham, AA Hitchcock, P Perucca, R Kuhn, CM Lander, MJ Eadie

2022-07-01

Objectives: To analyze the records of the pregnancies of 2283 Australian women with epilepsy in the Australian Register of Antiepi..

An Integrated Multi-Omic Network Analysis Identifies Seizure-Associated Dysregulated Pathways in the GAERS Model of Absence Epilepsy

A Harutyunyan, D Chong, R Li, AD Shah, Z Ali, C Huang, CK Barlow, P Perucca, TJ O’brien, NC Jones, RB Schittenhelm, A Anderson, PM Casillas-Espinosa

2022-06-01

Absence epilepsy syndromes are part of the genetic generalized epilepsies, the pathogen-esis of which remains poorly understood, a..

Epileptic seizure control during and after pregnancy in Australian women

FJE Vajda, TJ O’Brien, JE Graham, AA Hitchcock, P Perucca, CM Lander, MJ Eadie

2022-06-01

Objectives: To study factors that affected previous epileptic seizure control throughout pregnancy, during labour, and in the post..

Achieving neurologically desirable outcomes to pregnancy in women with epilepsy

FJE Vajda, TJ O'Brien, JE Graham, AE Hitchcock, P Perucca, CM Lander, MJ Eadie

2022-04-01

Objectives: To investigate possible factors that influenced whether pregnancy in women with epilepsy resulted in the desirable out..

Risk Factors and Prognosis of Early Posttraumatic Seizures in Moderate to Severe Traumatic Brain Injury

J Laing, B Gabbe, Z Chen, P Perucca, P Kwan, TJ O'Brien

2022-04-01

IMPORTANCE Early posttraumatic seizures (EPS) that may occur following a traumatic brain injury (TBI) are associated with poorer o..

Diagnostic delay in focal epilepsy: Association with brain pathology and age

M Yang, KM Tan, P Carney, P Kwan, TJ O'Brien, SF Berkovic, P Perucca, AM McIntosh

2022-03-01

Purpose: Between 16–77% of patients with newly diagnosed epilepsy report seizures before diagnosis but little is known about the r..

Clinical and EEG factors associated with antiseizure medication resistance in idiopathic generalized epilepsy

BK Kamitaki, M Janmohamed, P Kandula, C Elder, R Mani, S Wong, P Perucca, T O’Brien, H Lin, GA Heiman, H Choi

2022-01-01

Objective: We sought to determine which combination of clinical and electroencephalography (EEG) characteristics differentiate bet..

Moving the field forward: detection of epileptiform abnormalities on scalp electroencephalography using deep learning - clinical application perspectives

M Janmohamed, D Nhu, L Kuhlmann, A Gilligan, CW Tan, P Perucca, TJ O'Brien, P Kwan

2022-01-01

The application of deep learning approaches for the detection of interictal epileptiform discharges is a nascent field, with most ..

The control of treated generalized and focal epilepsies during pregnancy

FJE Vajda, TJO Brien, JE Graham, AA Hitchcock, P Perucca, CM Lander, MJ Eadie

2021-12-01

Objectives: To examine factors contributing to failure to achieve full seizure control during pregnancy in women with anti-seizure..

Association Between Psychiatric Comorbidities and Mortality in Epilepsy

G Tao, C Auvrez, R Nightscales, S Barnard, L Mccartney, CB Malpas, P Perucca, Z Chen, S Adams, A Mcintosh, S Ignatiadis, P O'brien, MJ Cook, P Kwan, SF Berkovic, W D'souza, D Velakoulis, TJ O'brien

2021-10-01

ObjectiveTo explore the impact of psychiatric comorbidities on all-cause mortality in adults with epilepsy from a cohort of patien..

Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study

M Andraus, J Thorpe, XY Tai, S Ashby, A Hallab, D Ding, P Dugan, P Perucca, D Costello, JA French, TJ O'Brien, C Depondt, DM Andrade, R Sengupta, N Delanty, N Jette, CR Newton, MJ Brodie, O Devinsky, J Helen Cross

2021-10-01

The COVID-19 pandemic has had an unprecedented impact on people and healthcare services. The disruption to chronic illnesses, such..

Missed, mistaken, stalled: Identifying components of delay to diagnosis in epilepsy

N Alessi, P Perucca, AM McIntosh

2021-07-01

A substantial proportion of individuals with newly diagnosed epilepsy report prior seizures, suggesting a missed opportunity for e..

Prenatal valproate exposure and adverse neurodevelopmental outcomes: Does sex matter?

E Honybun, R Thwaites, CB Malpas, G Rayner, A Anderson, J Graham, A Hitchcock, TJ O’Brien, FJE Vajda, P Perucca

2021-03-01

Objective: Prenatal exposure to the antiepileptic drug (AED) valproic acid (VPA) is associated with an increased risk of impaired ..

Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study

J Thorpe, S Ashby, A Hallab, D Ding, M Andraus, P Dugan, P Perucca, D Costello, JA French, TJ O'Brien, C Depondt, DM Andrade, R Sengupta, N Delanty, N Jette, CR Newton, MJ Brodie, O Devinsky, J Helen Cross, JW Sander

2021-02-01

The COVID-19 pandemic has caused global anguish unparalleled in recent times. As cases rise, increased pressure on health services..

Inflammation, ictogenesis, and epileptogenesis: An exploration through human disease

THL Tan, P Perucca, TJ O’Brien, P Kwan, M Monif

2021-02-01

Epilepsy is seen historically as a disease of aberrant neuronal signaling manifesting as seizures. With the discovery of numerous ..

Folic acid dose, valproate, and fetal malformations

FJE Vajda, TJ O'Brien, JE Graham, AA Hitchcock, P Perucca, CM Lander, MJ Eadie

2021-01-01

Objective: To determine whether there is a relationship between folic acid dose and the degree of protection against valproate-ass..

Genetic Contributions to Acquired Epilepsies

Piero Perucca, Ingrid E Scheffer

2021-01-01

Whether genetic factors contribute to acquired epilepsies has long been controversial. Supporters observe that, among individuals ..

Twin pregnancy in women with epilepsy

Frank JE Vajda, Terence J O'Brien, Janet E Graham, Alison A Hitchcock, Piero Perucca, Cecilie M Lander, Mervyn J Eadie

2020-12-01

Objective We report data from the Raoul Wallenberg Australian Register of Antiepileptic Drugs in Pregnancy (APR) to see if there a..

Progress report on new antiepileptic drugs: A summary of the Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV). I. Drugs in preclinical and early clinical development

M Bialer, SI Johannessen, MJ Koepp, RH Levy, E Perucca, P Perucca, T Tomson, HS White

2020-11-01

Since 1992, the Eilat Conferences have provided a forum for all stakeholders in the epilepsy community to appraise the latest data..

Progress report on new antiepileptic drugs: A summary of the Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV). II. Drugs in more advanced clinical development

M Bialer, SI Johannessen, MJ Koepp, RH Levy, E Perucca, P Perucca, T Tomson, HS White

2020-11-01

The Fifteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XV) was held as a fully virtual conference from July ..

Cardiorespiratory and autonomic function in epileptic seizures: A video-EEG monitoring study

S Sivathamboo, TN Constantino, Z Chen, PB Sparks, J Goldin, D Velakoulis, NC Jones, P Kwan, VG Macefield, TJ O'Brien, P Perucca

2020-10-01

Purpose: Seizure-induced cardiorespiratory and autonomic dysfunction has long been recognized, and growing evidence points to its ..

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

P Perucca, A Anderson, D Jazayeri, A Hitchcock, J Graham, M Todaro, T Tomson, D Battino, E Perucca, MM Ferri, A Rochtus, L Lagae, MP Canevini, E Zambrelli, E Campbell, BPC Koeleman, IE Scheffer, SF Berkovic, P Kwan, SM Sisodiya

2020-06-01

Objective: The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED-induced..