Douglas Crompton

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Colin A Ellis, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Eric B Geller, et al.

Journal article  |  2019  |  Epilepsia

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, et al.

Journal article  |  2019  |  Nature Communications

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and ..

Phenotypic analysis of 303 multiplex families with common epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Elisa J Cops, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Sarah I Garry, et al.

Journal article  |  2017  |  Brain

Familial Mesial Temporal Lobe Epilepsy and the Borderland of Deja Vu

Piero Perucca, Douglas E Crompton, Susannah T Bellows, Anne M McIntosh, Tomas Kalincik, Mark R Newton, Frank JE Vajda, Ingrid E Scheffer, Patrick Kwan, Terence J O'Brien, K Meng Tan, Samuel F Berkovic

Journal article  |  2017  |  Annals of Neurology

Genetic Basis of Sudden Unexpected Death in Epilepsy

Richard D Bagnall, Douglas E Crompton, Christopher Semsarian

Journal article  |  2017  |  Frontiers in Neurology

Deconstruction of Interhospital Transfer Workflow in Large Vessel Occlusion Real-World Data in the Thrombectomy Era

Felix C Ng, Essie Low, Emily Andrew, Karen Smith, Bruce CV Campbell, Peter J Hand, Douglas E Crompton, Tissa Wijeratne, Helen M Dewey, Philip M Choi

Journal article  |  2017  |  Stroke

Risk-adjusted hospital mortality rates for stroke: evidence from the Australian Stroke Clinical Registry (AuSCR)

Dominique A Cadilhac, Monique F Kilkenny, Christopher R Levi, Natasha A Lannin, Amanda G Thrift, Joosup Kim, Brenda Grabsch, Leonid Churilov, Helen M Dewey, Kelvin Hill, Steven G Faux, Rohan Grimley, Helen Castley, Peter J Hand, Andrew Wong, Geoffrey K Herkes, Melissa Gill, Douglas Crompton, Sandy Middleton, Geoffrey A Donnan, et al.

Journal article  |  2017  |  Medical Journal of Australia

Adverse clinical outcomes after dabigatran reversal with idarucizumab to facilitate acute stroke thrombolysis

Felix C Ng, James Bice, Anne Rodda, Matthew Lee-Archer, Douglas E Crompton

Journal article  |  2017  |  Journal of Neurology

Mortality in Dravet syndrome

Monica S Cooper, Anne Mcintosh, Douglas E Crompton, Jacinta M McMahon, Amy Schneider, Kevin Farrell, Vijeya Ganesan, Deepak Gill, Sara Kivity, Tally Lerman-Sagie, Ailsa McLellan, James Pelekanos, Venkateswaran Ramesh, Lynette Sadleir, Elaine Wirrell, Ingrid E Scheffer

Journal article  |  2016  |  Epilepsy Research

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2

Lyndal Henden, Saskia Freytag, Zaid Afawi, Sara Baldassari, Samuel F Berkovic, Francesca Bisulli, Laura Canafoglia, Giorgio Casari, Douglas Ewan Crompton, Christel Depienne, Jozef Gecz, Renzo Guerrini, Ingo Helbig, Edouard Hirsch, Boris Keren, Karl Martin Klein, Pierre Labauge, Eric LeGuern, Laura Licchetta, Davide Mei, et al.

Journal article  |  2016  |  Human Genetics

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Richard D Bagnall, Douglas E Crompton, Slave Petrovski, Lien Lam, Carina Cutmore, Sarah I Garry, Lynette G Sadleir, Leanne M Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M Regan, Johan Duflou, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

Journal article  |  2016  |  Annals of Neurology

Glut1 deficiency syndrome: Absence epilepsy and La Soupe du Jour.

Anaïs Thouin, Douglas E Crompton

Journal article  |  2016  |  Practical Neurology

For some time, paediatric neurologists have recognised glucose transporter type 1 (GluT1) deficiency syndrome as a cause of intrac..

Epileptic spasms are a feature of DEPDC5 mTORopathy

Gemma L Carvill, Douglas E Crompton, Brigid M Regan, Jacinta M McMahon, Julia Saykally, Matthew Zemel, Amy L Schneider, Leanne Dibbens, Katherine B Howell, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Saul A Mullen, Samuel F Berkovic, Joseph Sullivan, Ingrid E Scheffer, Heather C Mefford

Journal article  |  2015  |  Neurology Genetics

Large basilar tip aneurysm causing anterior internuclear ophthalmoplegia.

Saad A Khan, Mark Brooks, Douglas E Crompton

Journal article  |  2015  |  Practical Neurology

Extensive cerebral venous sinus thrombosis after romiplostim treatment for immune thrombocytopenia (ITP) despite severe thrombocytopenia

P Ho, S Khan, D Crompton, L Hayes

Journal article  |  2015  |  Internal Medicine Journal

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Richard D Bagnall, Douglas E Crompton, Carina Cutmore, Brigid M Regan, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

Journal article  |  2014  |  Neurology

MUTATIONS IN DEPDC5 ARE A MAJOR CAUSE OF LESIONAL AND NON-LESIONAL FOCAL EPILEPSY

LM Dibbens, IE Scheffer, BM Regan, S Mandelstam, DE Crompton, BL Hodgson, L Licchetta, F Provini, F Bisulli, L Vadlamudi, J Gecz, A Connelly, P Tinuper, MG Ricos, SF Berkovic, SE Heron

Conference Proceedings  |  2014  |  EPILEPSIA

Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations

Ingrid E Scheffer, Sarah E Heron, Brigid M Regan, Simone Mandelstam, Douglas E Crompton, Bree L Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G Ricos, Samuel F Berkovic, Leanne M Dibbens

Journal article  |  2014  |  Annals of Neurology

Periodic Febrile Encephalopathy with Mixed Connective Tissue Disease: a Novel Phenotype?

Tracy Briggs, Paul Brogan, Douglas Crompton, Yanick Crow

Journal article  |  2014  |  Annals of Paediatric Rheumatology

EXTENDING THE SPECTRUM OF KCNQ2 ENCEPHALOPATHY: DESCRIPTION OF 11 ADDITIONAL PATIENTS

S Weckhuysen, V Ivanovic, R Hendrickx, R Van Coster, H Hjalgrim, RS Moller, S Gronborg, A-S Schoonjans, B Ceulemans, S Heavin, C Eltze, R Horvath, T Pisano, G Casara, DE Crompton, L Giordano, R Guerrini, M Angriman, I Scheffer, P Striano, et al.

Conference Proceedings  |  2013  |  EPILEPSIA

MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY

LM Dibbens, B de Vries, S Donatello, SE Heron, BL Hodgson, S Chintawar, DE Crompton, JN Hughes, ST Bellows, KM Klein, PM Callenbach, MA Corbett, AE Gardner, S Kivity, X Iona, BM Regan, CM Weller, D Crimmins, T O'Brien, R Guerrero-Lopez, et al.

Conference Proceedings  |  2013  |  EPILEPSIA

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M Dibbens, Boukje de Vries, Simona Donatello, Sarah E Heron, Bree L Hodgson, Satyan Chintawar, Douglas E Crompton, James N Hughes, Susannah T Bellows, Karl Martin Klein, Petra MC Callenbach, Mark A Corbett, Alison E Gardner, Sara Kivity, Xenia Iona, Brigid M Regan, Claudia M Weller, Denis Crimmins, Terence J O'Brien, Rosa Guerrero-Lopez, et al.

Journal article  |  2013  |  Nature 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

Familial Adult Myoclonic Epilepsy Recognition of Mild Phenotypes and Refinement of the 2q Locus

Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows, Todor Arsov, Rosemary Harty, Kate M Lawrence, John W Dunne, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  Archives of Neurology

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

Douglas E Crompton, Ingrid E Scheffer, Isabella Taylor, Mark J Cook, Penelope A McKelvie, Danya F Vears, Kate M Lawrence, Jacinta M McMahon, Bronwyn E Grinton, Anne M McIntosh, Samuel F Berkovic

Journal article  |  2010  |  Brain

The borderland of epilepsy: A clinical and molecular view, 100 years on INTRODUCTION

Samuel F Berkovic, Douglas E Crompton

Journal article  |  2010  |  Epilepsia

CLINICAL AND NEUROPHYSIOLOGICAL CHARACTERIZATION OF A NEW LARGE FAMILY WITH FAMILIAL ADULT MYOCLONIC EPILEPSY (FAME)

IE Scheffer, Douglas E Crompton, LG Sadleir, M Bahlo, C Bromhead, ST Bellows, R Badawy, T Arsov, R Harty, KM Lawrence, JW Dunne, SF Berkovic

Conference Proceedings  |  2009  |  EPILEPSIA

FAMILIAL TEMPORAL LOBE EPILEPSY: A BENIGN EPILEPSY SYNDROME WITHOUT HIPPOCAMPAL SCLEROSIS, SHOWING COMPLEX INHERITANCE

Douglas E Crompton, IE Scheffer, AM McIntosh, MJ Cook, I Taylor, PA McKelvie, DF Vears, KM Lawrence, JM McMahon, BE Grinton, SF Berkovic

Conference Proceedings  |  2009  |  EPILEPSIA

The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures

Douglas E Crompton, Samuel F Berkovic

Journal article  |  2009  |  The Lancet

A neurologist's guide to genome-wide association studies

SA Mullen, DE Crompton, PW Carney, I Helbig, SF Berkovic

Journal article  |  2009  |  Neurology

Optic perineuritis as a rare initial presentation of sarcoidosis

Patrick Yu-Wai-Man, Douglas E Crompton, James Y Graham, Fiona M Black, Margaret R Dayan

Journal article  |  2007  |  Clinical & Experimental Ophthalmology

Sarcoidosis is a multisystem granulomatous disorder of unknown aetiology and establishing the correct diagnosis can be challenging..

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Patrick F Chinnery, Douglas E Crompton, Daniel Birchall, Margaret J Jackson, Alan Coulthard, Anne Lombes, Niall Quinn, Adrian Wills, Nicholas Fletcher, John P Mottershead, Paul Cooper, Mark Kellett, David Bates, John Burn

Journal article  |  2007  |  Brain

Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light..

Acquired Chiari 1 malformation and syringomyelia following lumboperitoneal shunting for pseudotumour cerebri

R Padmanabhan, D Crompton, D Burn, D Birchall

Journal article  |  2005  |  Journal of Neurology, Neurosurgery & Psychiatry

Spectrum of movement disorders in neuroferritinopathy

DE Crompton, PF Chinnery, D Bates, TJ Walls, MJ Jackson, AJ Curtis, J Burn

Journal article  |  2005  |  Movement Disorders

Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light ch..

Neuroferritinopathy in a French family with late onset dominant dystonia

PF Chinnery, ARJ Curtis, C Fey, A Coulthard, D Crompton, A Curtis, A Lombes, J Burn

Journal article  |  2003  |  Journal of Medical Genetics

Neuroferritinopathy: A window on the role of iron in neurodegeneration

DE Crompton, PF Chinnery, C Fey, ARJ Curtis, CM Morris, J Kierstan, A Burt, F Young, A Coulthard, A Curtis, PG Ince, D Bates, MJ Jackson, J Burn

Conference Proceedings  |  2002  |  Blood Cells, Molecules, and Diseases

ESSENTIAL AND NEURAL TRANSCRIPTS FROM THE DROSOPHILA SHAKING-B LOCUS ARE DIFFERENTIALLY EXPRESSED IN THE EMBRYONIC MESODERM AND PUPAL NERVOUS-SYSTEM

D CROMPTON, M TODMAN, M WILKIN, SQ JI, J DAVIES

Journal article  |  1995  |  Developmental Biology

ANALYSIS OF A CDNA FROM THE NEUROLOGICALLY ACTIVE LOCUS SHAKING-B (PASSOVER) OF DROSOPHILA-MELANOGASTER

DE CROMPTON, A GRIFFIN, JA DAVIES, GLG MIKLOS

Journal article  |  1992  |  Gene

We have isolated and sequenced a cDNA from the shaking-B locus of Drosophila melanogaster. The cDNA contains an open reading frame..