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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
Published in:
Epilepsia (Series 4), 2012, v. 53, n. 12, p. e204, doi. 10.1111/epi.12007
By:
- Arsov, Todor;
- Mullen, Saul A.;
- Damiano, John A.;
- Lawrence, Kate M.;
- Huh, Linda L.;
- Nolan, Melinda;
- Young, Helen;
- Thouin, Anaïs;
- Dahl, Hans-Henrik M.;
- Berkovic, Samuel F.;
- Crompton, Douglas E.;
- Sadleir, Lynette G.;
- Scheffer, Ingrid E.
Publication type:
Article
The borderland of epilepsy: A clinical and molecular view, 100 years on.
Published in:
Epilepsia (Series 4), 2010, v. 51, p. 3, doi. 10.1111/j.1528-1167.2009.02432.x
By:
- Berkovic, Samuel F.;
- Crompton, Douglas E.
Publication type:
Article
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 546, doi. 10.1038/ng.2599
By:
- Dibbens, Leanne M;
- de Vries, Boukje;
- Donatello, Simona;
- Heron, Sarah E;
- Hodgson, Bree L;
- Chintawar, Satyan;
- Crompton, Douglas E;
- Hughes, James N;
- Bellows, Susannah T;
- Klein, Karl Martin;
- Callenbach, Petra M C;
- Corbett, Mark A;
- Gardner, Alison E;
- Kivity, Sara;
- Iona, Xenia;
- Regan, Brigid M;
- Weller, Claudia M;
- Crimmins, Denis;
- O'Brien, Terence J;
- Guerrero-López, Rosa
Publication type:
Article
Chronic lymphocytic infiltration with pontine perivascular enhancement responsive to steroids (CLIPPERS) and its association with Epstein-Barr Virus (EBV)-related lymphomatoid granulomatosis: a case report.
Published in:
2021
By:
- Dang, Yew Li;
- Kok, Hong Kuan;
- McKelvie, Penelope A.;
- Ligtermoet, Matthew;
- Maddy, Laura;
- Burrows, David A.;
- Crompton, Douglas E.
Publication type:
journal article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
Published in:
Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
By:
- Henden, Lyndal;
- Freytag, Saskia;
- Afawi, Zaid;
- Baldassari, Sara;
- Berkovic, Samuel;
- Bisulli, Francesca;
- Canafoglia, Laura;
- Casari, Giorgio;
- Crompton, Douglas;
- Depienne, Christel;
- Gecz, Jozef;
- Guerrini, Renzo;
- Helbig, Ingo;
- Hirsch, Edouard;
- Keren, Boris;
- Klein, Karl;
- Labauge, Pierre;
- LeGuern, Eric;
- Licchetta, Laura;
- Mei, Davide
Publication type:
Article
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12671-y
By:
- Corbett, Mark A.;
- Kroes, Thessa;
- Veneziano, Liana;
- Bennett, Mark F.;
- Florian, Rahel;
- Schneider, Amy L.;
- Coppola, Antonietta;
- Licchetta, Laura;
- Franceschetti, Silvana;
- Suppa, Antonio;
- Wenger, Aaron;
- Mei, Davide;
- Pendziwiat, Manuela;
- Kaya, Sabine;
- Delledonne, Massimo;
- Straussberg, Rachel;
- Xumerle, Luciano;
- Regan, Brigid;
- Crompton, Douglas;
- van Rootselaar, Anne-Fleur
Publication type:
Article
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.
Published in:
Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3221, doi. 10.1093/brain/awq251
By:
- Crompton, Douglas E.;
- Scheffer, Ingrid E.;
- Taylor, Isabella;
- Cook, Mark J.;
- McKelvie, Penelope A.;
- Vears, Danya F.;
- Lawrence, Kate M.;
- McMahon, Jacinta M.;
- Grinton, Bronwyn E.;
- McIntosh, Anne M.;
- Berkovic, Samuel F.
Publication type:
Article
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Published in:
Brain: A Journal of Neurology, 2007, v. 130, n. 1, p. 110
By:
- Patrick F. Chinnery;
- Douglas E. Crompton;
- Daniel Birchall;
- Margaret J. Jackson;
- Alan Coulthard;
- Anne LombÃ¨s;
- Niall Quinn;
- Adrian Wills;
- Nicholas Fletcher;
- John P. Mottershead;
- Paul Cooper;
- Mark Kellett;
- David Bates;
- John Burn
Publication type:
Article
Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 11, p. 2194, doi. 10.1111/epi.16354
By:
- Abou‐Khalil, Bassel;
- Afawi, Zaid;
- Allen, Andrew S.;
- Bautista, Jocelyn F.;
- Bellows, Susannah T.;
- Berkovic, Samuel F.;
- Bluvstein, Judith;
- Burgess, Rosemary;
- Cascino, Gregory;
- Cossette, Patrick;
- Cristofaro, Sabrina;
- Crompton, Douglas E.;
- Delanty, Norman;
- Devinsky, Orrin;
- Dlugos, Dennis;
- Ellis, Colin A.;
- Epstein, Michael P.;
- Fountain, Nathan B.;
- Freyer, Catharine;
- Geller, Eric B.
Publication type:
Article
Ischaemic stroke as the first presentation of antineutrophilic cytoplasmic autoantibody‐associated vasculitis.
Published in:
2022
By:
- Tran, John Chuan Nguyen;
- Abasszade, Joshua Haron;
- Dang, Yew Li;
- Crompton, Douglas Ewan
Publication type:
Case Study
Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP.
Published in:
Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1422, doi. 10.1002/acn3.51381
By:
- Soh, Ming S.;
- Bagnall, Richard D.;
- Bennett, Mark F.;
- Bleakley, Lauren E.;
- Mohamed Syazwan, Erlina S.;
- Phillips, A. Marie;
- Chiam, Mathew D. F.;
- McKenzie, Chaseley E.;
- Hildebrand, Michael;
- Crompton, Douglas;
- Bahlo, Melanie;
- Semsarian, Christopher;
- Scheffer, Ingrid E.;
- Berkovic, Samuel F.;
- Reid, Christopher A.
Publication type:
Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Published in:
Annals of Neurology, 2023, v. 94, n. 5, p. 825, doi. 10.1002/ana.26765
By:
- Harris, Rebekah V.;
- Oliver, Karen L.;
- Perucca, Piero;
- Striano, Pasquale;
- Labate, Angelo;
- Riva, Antonella;
- Grinton, Bronwyn E.;
- Reid, Joshua;
- Hutton, Jessica;
- Todaro, Marian;
- O'Brien, Terence J.;
- Kwan, Patrick;
- Sadleir, Lynette G.;
- Mullen, Saul A.;
- Dazzo, Emanuela;
- Crompton, Douglas E.;
- Scheffer, Ingrid E.;
- Bahlo, Melanie;
- Nobile, Carlo;
- Gambardella, Antonio
Publication type:
Article
Familial mesial temporal lobe epilepsy and the borderland of déjà vu.
Published in:
2017
By:
- Perucca, Piero;
- Crompton, Douglas E.;
- Bellows, Susannah T.;
- McIntosh, Anne M.;
- Kalincik, Tomas;
- Newton, Mark R.;
- Vajda, Frank J. E.;
- Scheffer, Ingrid E.;
- Kwan, Patrick;
- O'Brien, Terence J.;
- Tan, K. Meng;
- Berkovic, Samuel F.
Publication type:
journal article
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Published in:
2016
By:
- Bagnall, Richard D.;
- Crompton, Douglas E.;
- Petrovski, Slavé;
- Lam, Lien;
- Cutmore, Carina;
- Garry, Sarah I.;
- Sadleir, Lynette G.;
- Dibbens, Leanne M.;
- Cairns, Anita;
- Kivity, Sara;
- Afawi, Zaid;
- Regan, Brigid M.;
- Duflou, Johan;
- Berkovic, Samuel F.;
- Scheffer, Ingrid E.;
- Semsarian, Christopher
Publication type:
journal article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
Published in:
Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
By:
- Scheffer, Ingrid E.;
- Heron, Sarah E.;
- Regan, Brigid M.;
- Mandelstam, Simone;
- Crompton, Douglas E.;
- Hodgson, Bree L.;
- Licchetta, Laura;
- Provini, Federica;
- Bisulli, Francesca;
- Vadlamudi, Lata;
- Gecz, Jozef;
- Connelly, Alan;
- Tinuper, Paolo;
- Ricos, Michael G.;
- Berkovic, Samuel F.;
- Dibbens, Leanne M.
Publication type:
Article
Adverse clinical outcomes after dabigatran reversal with idarucizumab to facilitate acute stroke thrombolysis.
Published in:
2017
By:
- Ng, Felix;
- Bice, James;
- Rodda, Anne;
- Lee-Archer, Matthew;
- Crompton, Douglas
Publication type:
Letter
Optic perineuritis as a rare initial presentation of sarcoidosis.
Published in:
2007
By:
- Yu-Wai-Man, Patrick;
- Crompton, Douglas E.;
- Graham, James Y.;
- Black, Fiona M.;
- Dayan, Margaret R.
Publication type:
Letter
Cervical cord infarction mimicking migraine in a patient with vertebral artery dissection.
Published in:
Medical Journal of Australia, 2023, v. 218, n. 3, p. 111, doi. 10.5694/mja2.51814
By:
- Rottler, Alanna;
- Dang, Yew Li;
- Hooi, Wai Foong;
- Burrows, David;
- Kok, Hong Kuan;
- Crompton, Douglas
Publication type:
Article
Risk-adjusted hospital mortality rates for stroke: evidence from the Australian Stroke Clinical Registry (AuSCR).
Published in:
2017
By:
- Cadilhac, Dominique A.;
- Kilkenny, Monique F.;
- Levi, Christopher R.;
- Lannin, Natasha A.;
- Thrift, Amanda G.;
- Kim, Joosup;
- Grabsch, Brenda;
- Churilov, Leonid;
- Dewey, Helen M.;
- Hill, Kelvin;
- Faux, Steven G.;
- Grimley, Rohan;
- Castley, Helen;
- Hand, Peter J.;
- Wong, Andrew;
- Herkes, Geoffrey K.;
- Gill, Melissa;
- Crompton, Douglas;
- Middleton, Sandy;
- Donnan, Geoffrey A.
Publication type:
journal article
Spectrum of movement disorders in neuroferritinopathy.
Published in:
Movement Disorders, 2005, v. 20, n. 1, p. 95, doi. 10.1002/mds.20284
By:
- Crompton, Douglas E.;
- Chinnery, Patrick F.;
- Bates, David;
- Walls, Timothy J.;
- Jackson, Margaret J.;
- Curtis, Andrew J.;
- Burn, John
Publication type:
Article
Genetic Basis of Sudden Unexpected Death in Epilepsy.
Published in:
Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00348
By:
- Bagnall, Richard D.;
- Crompton, Douglas E.;
- Semsarian, Christopher
Publication type:
Article

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