Marian Todaro

Association between CYP2C9 polymorphisms and ischemic stroke following endovascular neurointervention

Subhashaan Sreedharan, Leonid Churilov, Jianxiong Chan, Marian Todaro, Alan Coulthard, Jeffrey Hocking, Kate Mahady, Peter Mitchell, Richard Dowling, Steven Bush, Patrick Kwan, Bernard Yan

Journal article  |  2020  |  JOURNAL OF STROKE & CEREBROVASCULAR DISEASES

Objective Polymorphisms in the CYP2C9 gene may be associated with adverse vascular events following endovascular procedures indepe..

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

Piero Perucca, Alison Anderson, Dana Jazayeri, Alison Hitchcock, Janet Graham, Marian Todaro, Torbjorn Tomson, Dina Battino, Emilio Perucca, Meritxell Martinez Ferri, Anne Rochtus, Lieven Lagae, Maria Paola Canevini, Elena Zambrelli, Ellen Campbell, Bobby PC Koeleman, Ingrid E Scheffer, Samuel F Berkovic, Patrick Kwan, Sanjay M Sisodiya, et al.

Journal article  |  2020  |  ANNALS OF NEUROLOGY

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

Polygenic burden in focal and generalized epilepsies

Costin Leu, Remi Stevelink, Alexander W Smith, Slavina B Goleva, Masahiro Kanai, Lisa Ferguson, Ciaran Campbell, Yoichiro Kamatani, Yukinori Okada, Sanjay M Sisodiya, Gianpiero L Cavalleri, Bobby PC Koeleman, Holger Lerche, Lara Jehi, Lea K Davis, Imad M Najm, Aarno Palotie, Mark J Daly, Robyn M Busch, Dennis Lal

Journal article  |  2019  |  BRAIN

Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The..

Rapid Detection of HLA-B*57:01-Expressing Cells Using a Label-Free Interdigitated Electrode Biosensor Platform for Prevention of Abacavir Hypersensitivity in HIV Treatment

Jianxiong Chan, Gita V Soraya, Lauren Craig, Shah M Uddin, Marian Todaro, Duc H Huynh, Chathurika D Abeyrathne, Lyudmila Kostenko, James McCluskey, Efstratios Skafidas, Patrick Kwan

Journal article  |  2019  |  Sensors

Pre-treatment screening of individuals for human leukocyte antigens (HLA) HLA-B*57:01 is recommended for the prevention of life-th..

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen-Chen Anne Feng, Daniel P Howrigan, Liam E Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L Heinzen, Ryan S Dhindsa, Kate E Stanley, Gianpiero L Cavalleri, Hakon Hakonarson, Ingo Helbig, Roland Krause, Patrick May, et al.

Journal article  |  2019  |  AMERICAN JOURNAL OF HUMAN GENETICS

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleter..

Acquired cardiac channelopathies in epilepsy: Evidence, mechanisms, and clinical significance

Michael CH Li, Terence J O'Brien, Marian Todaro, Kim L Powell

Journal article  |  2019  |  EPILEPSIA

There is growing evidence that cardiac dysfunction in patients with chronic epilepsy could play a pathogenic role in sudden unexpe..

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.

Bianca Berghuis, Caragh Stapleton, Anja CM Sonsma, Janic Hulst, Gerrit-Jan de Haan, Dick Lindhout, Rita Demurtas, undefined EpiPGX Consortium, Roland Krause, Chantal Depondt, Wolfram S Kunz, Federico Zara, Pasquale Striano, John Craig, Pauls Auce, Anthony G Marson, Hreinn Stefansson, Terence J O'Brien, Michael R Johnson, Graeme J Sills, et al.

Journal article  |  2019  |  Epilepsia Open

Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (CO..

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J Balding, Thomas Bast, Larry Baum, Albert J Becker, Felicitas Becker, Bianca Berghuis, Samuel F Berkovic, Katja E Boysen, Jonathan P Bradfield, Lawrence C Brody, Russell J Buono, Ellen Campbell, Gregory D Cascino, Claudia B Catarino, Gianpiero L Cavalleri, Stacey S Cherny, et al.

Journal article  |  2018  |  NATURE COMMUNICATIONS

The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report a genome..

An interdigitated electrode biosensor platform for rapid HLA-B*15:02 genotyping for prevention of drug hypersensitivity

Gita V Soraya, Jianxiong Chan, Thanh C Nguyen, Duc H Huynh, Chathurika D Abeyrathne, Gursharan Chana, Marian Todaro, Efstratios Skafidas, Patrick Kwan

Journal article  |  2018  |  BIOSENSORS & BIOELECTRONICS

Prevention of life threatening hypersensitivity reactions to carbamazepine is possible through pre-treatment screening of the asso..

The pathophysiology of cardiac dysfunction in epilepsy

Krishnan Ravindran, Kim L Powell, Marian Todaro, Terence J O'Brien

Journal article  |  2016  |  EPILEPSY RESEARCH

Alterations in cardiac electrophysiology are an established consequence of long-standing drug resistant epilepsy. Patients with ch..