Michael Hildebrand

Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing

Zimeng Ye, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2021  |  ANNALS OF NEUROLOGY

Loss-of-function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

Ming S Soh, Richard D Bagnall, Mark F Bennett, Lauren E Bleakley, Erlina S Mohamed Syazwan, A Marie Phillips, Mathew DF Chiam, Chaseley E McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E Scheffer, Samuel F Berkovic, Christopher A Reid

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls ..

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Sarah E Heron, Brigid M Regan, Rebekah V Harris, Alison E Gardner, Matthew J Coleman, Mark F Bennett, Bronwyn E Grinton, Katherine L Helbig, Michael R Sperling, Sheryl Haut, Eric B Geller, Peter Widdess-Walsh, James T Pelekanos, Melanie Bahlo, Slave Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz, et al.

Journal article  |  2021  |  NEUROLOGY

OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we ..

Climate change and epilepsy: Insights from clinical and basic science studies

Medine Gulcebi, Emanuele Bartolini, Omay Lee, Christos Panagiotis Lisgaras, Filiz Onat, Janet Mifsud, Pasquale Striano, Annamaria Vezzani, Michael S Hildebrand, Diego Jimenez-Jimenez, Larry Junck, David Lewis-Smith, Ingrid E Scheffer, Roland D Thijs, Sameer M Zuberi, Stephen Blenkinsop, Hayley J Fowler, Aideen Foley, Sanjay M Sisodiya, Simona Balestrini, et al.

Journal article  |  2021  |  EPILEPSY & BEHAVIOR

Climate change is with us. As professionals who place value on evidence-based practice, climate change is something we cannot igno..

Contribution of rare genetic variants to drug response in absence epilepsy

Kenneth A Myers, Mark F Bennett, Bronwyn E Grinton, Gabriel Dabscheck, Eunice K Chan, Luis E Bello-Espinosa, Lynette G Sadleir, Sabrina D'Alfonso, Amy L Schneider, John A Damiano, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic, Jeffrey Buchhalter, Ingrid E Scheffer

Journal article  |  2021  |  EPILEPSY RESEARCH

OBJECTIVE: We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide ..

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Zimeng Ye, Zac Chatterton, Jahnvi Pflueger, John A Damiano, Lara McQuillan, Anthony Simon Harvey, Stephen Malone, Hongdo Do, Wirginia Maixner, Amy Schneider, Bernadette Nolan, Martin Wood, Wei Shern Lee, Greta Gillies, Kate Pope, Michael Wilson, Paul J Lockhart, Alexander Dobrovic, Ingrid E Scheffer, Melanie Bahlo, et al.

Journal article  |  2021  |  BRAIN COMMUNICATIONS

Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and ma..

Transcriptome analysis of a ring chromosome 20 patient cohort

Kenneth A Myers, Mark F Bennett, Michael S Hildebrand, Matthew J Coleman, Geyu Zhou, Georgie Hollingsworth, Anita Cairns, Kate Riney, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer

Journal article  |  2020  |  EPILEPSIA

Ring chromosomes occur when the ends of normally rod-shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disabi..

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C Aoto, Erik MF Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F Bennett, Amy L Schneider, et al.

Journal article  |  2020  |  American Journal of Human Genetics

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme tha..

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine B Hammer, Elena Gardella, Danique RM Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris de Lange, Jing Zhang, Candace T Myers, Christina Fenger, Zaid Afawi, Edith P Almanza Fuerte, Danielle M Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F Bennett, Samuel F Berkovic, Bertrand Isidor, Arjan Bouman, Eva Brilstra, et al.

Journal article  |  2020  |  GENETICS IN MEDICINE

PURPOSE: Pathogenic variants in the X-linked gene NEXMIF (previously KIAA2022) are associated with intellectual disability (ID), a..

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Joanne M Hildebrand, Maria Kauppi, Ian J Majewski, Zikou Liu, Allison J Cox, Sanae Miyake, Emma J Petrie, Michael A Silk, Zhixiu Li, Maria C Tanzer, Gabriela Brumatti, Samuel N Young, Cathrine Hall, Sarah E Garnish, Jason Corbin, Michael D Stutz, Ladina Di Rago, Pradnya Gangatirkar, Emma C Josefsson, Kristin Rigbye, et al.

Journal article  |  2020  |  NATURE COMMUNICATIONS

MLKL is the essential effector of necroptosis, a form of programmed lytic cell death. We have isolated a mouse strain with a singl..