John Damiano

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim, et al.

Journal article  |  2020  |  Neuron

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..

SCN1A Variants in vaccine-related febrile seizures: A prospective study

John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic

Journal article  |  2019  |  Annals of Neurology

OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..

Repeat Expansion Disorders Enriched In An Australian And New Zealand Epi25 Year 1 Epilepsy Cohort

MF Bennett, RM Tankard, CA Bennett, AL Schneider, BM Regan, JA Damiano, MS Hildebrand, LG Sadleir, IE Scheffer, SF Berkovic, M Bahlo

Conference Proceedings  |  2019  |  EPILEPSIA

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones, et al.

Journal article  |  2019  |  Epilepsia Open

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Samuel F Berkovic, Karen L Oliver, Laura Canafoglia, Penina Krieger, John A Damiano, Michael S Hildebrand, Michela Morbin, Danya F Vears, Vito Sofia, Loretta Giuliano, Barbara Garavaglia, Alessandro Simonati, Filippo M Santorelli, Antonio Gambardella, Angelo Labate, Vincenzo Belcastro, Barbara Castellotti, Cigdem Ozkara, Adam Zeman, Julia Rankin, et al.

Journal article  |  2019  |  Brain

Development of a rapid functional assay that predicts GLUT1 disease severity

Sasha M Zaman, Saul A Mullen, Slave Petrovski, Snezana Maljevic, Elena Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stephane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou

Journal article  |  2018  |  Neurology Genetics

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Demet Kinay, Karen L Oliver, Erdem Tuzun, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2018  |  Epilepsia

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome

Michael S Hildebrand, A Simon Harvey, Stephen Malone, John A Damiano, Hongdo Do, Zimeng Ye, Lara McQuillan, Wirginia Maixner, Renate Kalnins, Bernadette Nolan, Martin Wood, Ezgi Ozturk, Nigel C Jones, Greta Gillies, Kate Pope, Paul J Lockhart, Alexander Dobrovic, Richard J Leventer, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2018  |  Neurology Genetics

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2017  |  Epileptic Disorders

Genetic epilepsy with febrile seizures plus Refining the spectrum

Yue-Hua Zhang, Rosemary Burgess, Jodie P Malone, Georgie C Glubb, Katherine L Helbig, Lata Vadlamudi, Sara Kivity, Zaid Afawi, Andrew Bleasel, Padraic Grattan-Smith, Bronwyn E Grinton, Susannah T Bellows, Danya F Vears, John A Damiano, Hadassa Goldberg-Stern, Amos D Korczyn, Leanne M Dibbens, Elizabeth K Ruzzo, Michael S Hildebrand, Samuel F Berkovic, et al.

Journal article  |  2017  |  Neurology

Evaluation of GLUT1 variation in non-acquired focal epilepsy

Alexander Peeraer, John A Damiano, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic, Saul A Mullen, Michael S Hildebrand

Journal article  |  2017  |  Epilepsy Research

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2017  |  Epilepsia

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy

Piero Perucca, Ingrid E Scheffer, A Simon Harvey, Paul A James, Sebastian Lunke, Natalie Thorne, Clara Gaff, Brigid M Regan, John A Damiano, Michael S Hildebrand, Samuel F Berkovic, Terence J O'Brien, Patrick Kwan

Journal article  |  2017  |  Epilepsy Research

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood

Sara Kivity, Karen L Oliver, Zaid Afawi, John A Damiano, Todor Arsov, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2017  |  Epilepsy Research

De novo SCN1A pathogenic variants in the GEFS plus spectrum: Not always a familial syndrome

Kenneth A Myers, Rosemary Burgess, Zaid Afawi, John A Damiano, Samuel F Berkovic, Michael S Hildebrand, Ingrid E Scheffer

Journal article  |  2017  |  Epilepsia

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

Journal article  |  2016  |  Developmental Medicine & Child Neurology

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, John A Damiano, Saul A Mullen, Slave Petrovski, Ram S Puranam, Koen LI van Gassen, Jozef Gecz, Ingrid E Scheffer, James O McNamara, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2016  |  Epilepsy Research

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole

Journal article  |  2016  |  NEUROLOGY

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen

Journal article  |  2016  |  The American Journal of Human Genetics

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

Journal article  |  2016  |  NEUROLOGY

Loss of synaptic Zn2 transporter function increases risk of febrile seizures

Michael S Hildebrand, A Marie Phillips, Saul A Mullen, Paul A Adlard, Katia Hardies, John A Damiano, Verena Wimmer, Susannah T Bellows, Jacinta M McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid E Scheffer, Steven Petrou, Samuel F Berkovic, Christopher A Reid

Journal article  |  2015  |  SCIENTIFIC REPORTS

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2015  |  Epilepsy Research

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

Journal article  |  2015  |  Human Molecular Genetics

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid, et al.

Journal article  |  2015  |  Annals of Clinical and Translational Neurology

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2014  |  HUMAN GENETICS

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2014  |  EPILEPSIA

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

Young Ok Kim, Susannah Bellows, Jacinta M Mcmahon, Xenia Iona, John Damiano, Leanne Dibbens, Kent Kelley, Deepak Gill, J Helen Cross, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2014  |  Developmental Medicine and Child Neurology

Small Intragenic Deletion in FOXP2 Associated With Childhood Apraxia of Speech and Dysarthria

Samantha J Turner, Michael S Hildebrand, Susan Block, John Damiano, Michael Fahey, Sheena Reilly, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan

Journal article  |  2013  |  American Journal of Medical Genetics. Part A

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O'Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski, et al.

Journal article  |  2013  |  NATURE GENETICS

Mutations in TNK2 in Severe Autosomal Recessive Infantile Onset Epilepsy

Yuki Hitomi, Erin L Heinzen, Simona Donatello, Hans-Henrik Dahl, John A Damiano, Jacinta M McMahon, Samuel F Berkovic, Ingrid E Scheffer, Benjamin Legros, Myriam Rai, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Massimo Pandolfo, David B Goldstein, Patrick Van Bogaert, Chantal Depondt

Journal article  |  2013  |  ANNALS OF NEUROLOGY

Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease

M Cadieux-Dion, E Andermann, P Lachance-Touchette, O Ansorge, C Meloche, A Barnabe, RI Kuzniecky, F Andermann, E Faught, S Leonberg, JA Damiano, SF Berkovic, GA Rouleau, P Cossette

Journal article  |  2013  |  Clinical Genetics

EPILEPSY-APHASIA SPECTRUM DISORDERS ARE CAUSED BY MUTATIONS IN GRIN2A

GL Carvill, BM Regan, SC Yendle, BJ O'Roak, A Khan, J Cook, LG Sadleir, SJ Turner, M-H Tsai, R Webster, R Ouvrier, J Damiano, SF Berkovic, J Shendure, M Hildebrand, IE Scheffer, HC Mefford

Conference Proceedings  |  2013  |  EPILEPSIA

Recent advances in the molecular genetics of epilepsy

Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard JH Smith, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2013  |  Journal of Medical Genetics

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Groetzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman, et al.

Journal article  |  2013  |  HUMAN MOLECULAR GENETICS

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

Todor Arsov, Saul A Mullen, John A Damiano, Kate M Lawrence, Linda L Huh, Melinda Nolan, Helen Young, Anais Thouin, Hans-Henrik M Dahl, Samuel F Berkovic, Douglas E Crompton, Lynette G Sadleir, Ingrid E Scheffer

Journal article  |  2012  |  EPILEPSIA

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

Todor Arsov, Saul A Mullen, Sue Rogers, A Marie Phillips, Kate M Lawrence, John A Damiano, Hadassa Goldberg-Stern, Zaid Afawi, Sara Kivity, Chantal Trager, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  Annals of Neurology

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R Smith, John Damiano, Silvana Franceschetti, Stirling Carpenter, Laura Canafoglia, Michela Morbin, Giacomina Rossi, Davide Pareyson, Sara E Mole, John F Staropoli, Katherine B Sims, Jada Lewis, Wen-Lang Lin, Dennis W Dickson, Hans-Henrik Dahl, Melanie Bahlo, Samuel F Berkovic

Journal article  |  2012  |  AMERICAN JOURNAL OF HUMAN GENETICS

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Daniel Carranza Rojo, A Simon Harvey, Xenia Iona, Leanne M Dibbens, John A Damiano, Todor Arsov, Deepak Gill, Jeremy L Freeman, Richard J Leventer, Angela Vincent, Samuel F Berkovic, Jacinta M McMahon, Ingrid E Scheffer

Journal article  |  2012  |  Epilepsy Research

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

Saul A Mullen, Carla Marini, Arvid Suls, Davide Mei, Elvio Della Giustina, Daniela Buti, Tudor Arsov, John Damiano, Kate Lawrence, Peter De Jonghe, Samuel F Berkovic, Ingrid E Scheffer, Renzo Guerrini

Journal article  |  2011  |  Archives of Neurology

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6

Todor Arsov, Katherine R Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J Bromhead, Eva Andermann, Danya F Vears, Patrick Cossette, Sulekha Rajagopalan, Alan McDougall, Vito Sofia, Michael Farrell, Umberto Aguglia, Andrea Zini, Stefano Meletti, Michela Morbin, Saul Mullen, Frederick Andermann, Sara E Mole, et al.

Journal article  |  2011  |  American Journal of Human Genetics

Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations

LM Dibbens, R Kneen, MA Bayly, SE Heron, T Arsov, JA Damiano, T Desai, J Gibbs, F McKenzie, JC Mulley, A Ronan, IE Scheffer

Journal article  |  2011  |  Neurology

Positional cloning of a cyromazine resistance gene in Drosophila melanogaster

Z Chen, C Robin, J Damiano, J Lydall, C Lumb, K Smith, A Blasetti, PJ Daborn, D Heckel, JA McKenzie, P Batterham

Journal article  |  2006  |  Insect Molecular Biology