Michael Hildebrand

Rare. The importance of research, analysis, reporting and education in 'solving' the genetic epilepsies: A perspective from the European patient advocacy group for EpiCARE.

E Nott, KE Behl, I Brambilla, TE Green, M Lucente, R Vavassori, A Watson, B Dalla Bernardina, MS Hildebrand

Journal article  |  2023  |  Eur J Med Genet

WWOX Developmental and Epileptic Encephalopathy (WWOX-DEE): understanding the epileptology and the mortality risk.

Karen L Oliver, Marina Trivisano, Simone A Mandelstam, Angela De Dominicis, David I Francis, Timothy E Green, Alison M Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A Myers, Richard J Leventer, Gaetan Lesca, Melanie Bahlo, Michael S Hildebrand, Heather C Mefford, et al.

Journal article  |  2023  |  Epilepsia

OBJECTIVE: WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX-DEE), also kno..

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Allyn McConkie-Rosell, Marie McDonald, Halie May, Tristan Sands, Vimla Aggarwal, Christopher Elder, Timothy Feyma, Allan Bayat, Rikke S Møller, Christina D Fenger, Jens Erik Klint Nielsen, Anita N Datta, Kathleen M Gorman, Mary D King, Natalia D Linhares, et al.

Journal article  |  2023  |  Neurology

BACKGROUND AND OBJECTIVES: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopme..

Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission.

Angel Aledo-Serrano, Giulia Battaglia, Stephen Blenkinsop, Norman Delanty, Hasnaa M Elbendary, Sara Eyal, Alla Guekht, Medine I Gulcebi, David C Henshall, Michael S Hildebrand, Bernadette Macrohon, Priyanka Madaan, Janet Mifsud, James D Mills, Kathryn Hodgson Neill, Alessia Romagnolo, Annamaria Vezzani, Sanjay M Sisodiya

Journal article  |  2023  |  Seizure

The release of the 2021 Intergovernmental Panel on Climate Change (IPCC) report makes clear that human activities have resulted in..

Sclerosing perivascular epithelioid cell tumour (PEComa) of the testis in a patient with tuberous sclerosis complex.

Laurence A Galea, Michael S Hildebrand, Amber Boys, Christopher Joy, Justin Chee, Gordon White

Journal article  |  2023  |  Pathology

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development(jan, 10.1038/s41380022-01764-8, 2023)

Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, et al.

Journal article  |  2023  |  MOLECULAR PSYCHIATRY

Wording was altered for the discussion. Only two probands (11%) with genetic diagnoses (SETD1B (ID10), ERF (ID18)) had CAS without..

A companion to the preclinical common data elements for proteomics, lipidomics, and metabolomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force

Laura Bindila, Tore Eid, James D Mills, Michael S Hildebrand, Gary P Brennan, Susan A Masino, Vicky Whittemore, Piero Perucca, Christopher A Reid, Manisha Patel, Kevin K Wang, Erwin A van Vliet

Journal article  |  2022  |  EPILEPSIA OPEN

The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK..

ALK-rearranged renal cell carcinoma with TPM3::ALK gene fusion and review of the literature

Laurence A Galea, Michael S Hildebrand, Tom Witkowski, Christopher Joy, Christopher R McEvoy, Uri Hanegbi, Ahmad Aga

Journal article  |  2022  |  VIRCHOWS ARCHIV

ALK-rearranged renal cell carcinoma (ALK-RCC) is a very rare novel molecularly defined entity in the recently published fifth edit..

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.

Zimeng Ye, Mark F Bennett, Andrew Neal, Joshua A Laing, Martin K Hunn, Thanomporn Wittayacharoenpong, Marian Todaro, Sheila K Patel, Melanie Bahlo, Patrick Kwan, Terence J O'Brien, Ingrid E Scheffer, Samuel F Berkovic, Piero Perucca, Michael S Hildebrand

Journal article  |  2022  |  Neurology

BACKGROUND AND OBJECTIVES: Mosaic pathogenic variants restricted to brain are increasingly recognized as a cause of focal epilepsi..

Hippocampal Somatic Mutations in Mesial Temporal Lobe Epilepsy

Sattar Khoshkhoo, Yilan Wang, Yasmine Chahine, Stephanie M Robert, August Yue Huang, Edward Stronge, H Westley Phillips, Brian H Chhouk, Thiuni N Adikari, Zimeng Ye, Tom Witkowski, Julie Lokan, Ingrid E Scheffer, Sam Berkovic, Michael Hildebrand, Edward Yang, Sanda Alexandrescu, Anita Huttner, Annapurna Poduri, Eunjung Alice Lee, et al.

Conference Proceedings  |  2022  |  ANNALS OF NEUROLOGY