Bronwyn Grinton

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..

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

Cheryl Shoubridge, Matilda Jackson, Bronwyn Grinton, Samuel F Berkovic, Ingrid E Scheffer, Shannon Huskins, Alison Thomas, Tyson Ware

Journal article  |  2019  |  American Journal of Medical Genetics Part A

Pathogenic variants in the X-chromosome Aristaless-related homeobox (ARX) gene contribute to intellectual disability, epilepsy, an..

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

Samuel F Berkovic, Tracy Dixon-Salazar, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Julie Milder, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto, et al.

Journal article  |  2018  |  GENETICS IN MEDICINE

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study

Kenneth A Myers, Margot J Davey, Michael Ching, Cohn Ellis, Bronwyn E Grinton, Annie Roten, Paul A Lightfoot, Ingrid E Scheffer

Journal article  |  2018  |  Journal of Clinical Sleep Medicine

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

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E Grinton, Sarah E Heron, James T Pelekanos, Sameer M Zuberi, Sara Kivity, Zaid Afawi, Tristiana C Williams, Dan M Casalaz, Simone Yendle, Ilan Linder, Dorit Lev, Tally Lerman-Sagie, Stephen Malone, Haim Bassan, Hadassa Goldberg-Stern, Thorsten Stanley, Michael Hayman, Sophie Calvert, Amos D Korczyn, Michael Shevell, et al.

Journal article  |  2015  |  EPILEPSIA

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

Martin Puskarjov, Patricia Seja, Sarah E Heron, Tristiana C Williams, Faraz Ahmad, Xenia Iona, Karen L Oliver, Bronwyn E Grinton, Laszlo Vutskits, Ingrid E Scheffer, Steven Petrou, Peter Blaesse, Leanne M Dibbens, Samuel F Berkovic, Kai Kaila

Journal article  |  2014  |  EMBO REPORTS

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G Sadleir, Samuel F Berkovic, Leanne M Dibbens

Journal article  |  2012  |  NEUROLOGY

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

Susan E Tomlinson, Hugh Bostock, Bronwyn Grinton, Michael G Hanna, Dimitri M Kullmann, Matthew C Kiernan, Ingrid E Scheffer, Samuel F Berkovic, David Burke

Journal article  |  2012  |  BRAIN

THE FAMILIAL EPILEPSY SYNDROME OF GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS: SYNDROME EVOLUTION OVER SEVENTEEN YEARS

IE Scheffer, JP Malone, GC Glubb, K Helbig, L Dibbens, L Vadlamudi, A Bleasel, R Burgess, B Grinton, D Vears, Z Afawi, H Goldberg-Stern, S Kivity, AD Korczyn, J Mulley, S Berkovic, YH Zhang

Conference Proceedings  |  2012  |  EPILEPSIA

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

Danya F Vears, Meng-Han Tsai, Lynette G Sadleir, Bronwyn E Grinton, Leasha M Lillywhite, Patrick W Carney, A Simon Harvey, Samuel F Berkovic, Ingrid E Scheffer

Journal article  |  2012  |  Epilepsia

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D Korczyn, Alison E Gardner, Mark A Corbett, Jozef Gecz, Paul Q Thomas, et al.

Journal article  |  2012  |  AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes

John C Mulley, Ingrid E Scheffer, Tarishi Desai, Marta A Bayly, Bronwyn E Grinton, Danya F Vears, Samuel F Berkovic, Leanne M Dibbens

Journal article  |  2011  |  Epilepsia

IS BENIGN FAMILIAL INFANTILE EPILEPSY (BFIE) LINKED TO CHROMOSOME 16P11.2-Q12.1 THE RESULT OF AN UNUSUAL MUTATIONAL MECHANISM?

SE Heron, A Gardner, M Corbett, J Gecz, BE Grinton, SM Zuberi, C Pridmore, E Haan, S Kivity, Z Afawi, AD Korczyn, SF Berkovic, IE Scheffer, LM Dibbens, JC Mulley

Conference Proceedings  |  2011  |  EPILEPSIA

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

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3

Sarah E Heron, Ingrid E Scheffer, Bronwyn E Grinton, Helen Eyre, Karen L Oliver, Sharon Bain, Samuel F Berkovic, John C Mulley

Journal article  |  2010  |  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

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures

SE Heron, K Cox, BE Grinton, SM Zuberi, Sara Kivity, Z Afawi, R Straussberg, SF Berkovic, E Scheffer, JC Mulley

Journal article  |  2007  |  Journal of Medical Genetics

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

Gianpiero L Cavalleri, Michael E Weale, Kevin V Shianna, Rinki Singh, John M Lynch, Bronwyn Grinton, Cassandra Szoeke, Kevin Murphy, Peter Kinirons, Deirdre O'Rourke, Dongliang Ge, Chantal Depondt, Kristl G Claeys, Massimo Pandolfo, Curtis Gumbs, Nicole Walley, James McNamara, John C Mulley, Kristen N Linney, Leslie J Sheffield, et al.

Journal article  |  2007  |  The Lancet Neurology

SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum

Eric Herlenius, Sarah E Heron, Bronwyn E Grinton, Deborah Keay, Ingrid E Scheffer, John C Mulley, Samuel F Berkovic

Journal article  |  2007  |  Epilepsia

Temporal lobe epilepsy and GEFS phenotypes associated with SCN1B mutations.

Ingrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, Leanne M Dibbens, Samantha J Turner, Marta A Zielinski, Ruwei Xu, Graeme Jackson, Judith Adams, Mary Connellan, Steven Petrou, R Mark Wellard, Regula S Briellmann, Robyn H Wallace, John C Mulley, Samuel F Berkovic

Journal article  |  2007  |  Brain : a journal of neurology

SCN1B, the gene encoding the sodium channel beta 1 subunit, was the first gene identified for generalized epilepsy with febrile se..

Benign familial neonatal seizures: Molecular basis and evidence for a third locus

B Grinton, S Heron, J Pelekanos, S Zuberi, T Stanley, S Kivity, H Goldberg-Stern, T Lerman-Sagie, J Mulley, I Scheffer, S Berkovic

Conference Proceedings  |  2007  |  EPILEPSIA

Benign familial neonatal-infantile seizures: The mutational and phenotypic spectrum

S Heron, B Grinton, E Herlenius, D Keay, K Kron, J Mulley, I Scheffer, S Berkovic

Conference Proceedings  |  2007  |  EPILEPSIA

Temporal lobe epilepsy and GEFS( ) phenotypes associated with SCN1B mutations

Ingrid E Scheffer, Louise A Harkin, Bronwyn E Grinton, Leanne M Dibbens, Samantha J Turner, Marta A Zielinski, Ruwei Xu, Graeme Jackson, Judith Adams, Mary Connellan, Steven Petrou, R Mark Wellard, Regula S Briellmann, Robyn H Wallace, John C Mulley, Samuel F Berkovic

Journal article  |  2007  |  Brain

Invited comments on the Shostak and Ottman review.

Bronwyn E Grinton, Ingrid E Scheffer, Samuel F Berkovic

Journal article  |  2006  |  Epilepsia

Invited comments on the Shostak and Ottman review

Ingrid E Scheffer, Samuel F Berkovic, Bronwyn E Grinton

Journal article  |  2006  |  EPILEPSIA

The non-neurologists' view on epilepsy syndromes classification

DF Vears, BE Grinton, JM McMahon

Journal article  |  2006  |  Epileptic Disorders

Invited comments on the Shostak and Ottman review. Genetic research on the epilepsies.

B GRINTON, I SCHEFFER, S BERKOVIC

Journal article  |  2006  |  Epilepsia

Familial clustering of seizure types within the idiopathic generalized epilepsies

MR Winawer, C Marini, BE Grinton, D Rabinowitz, SF Berkovic, IE Scheffer, R Ottman

Journal article  |  2005  |  Neurology

Liquid serial dilution is inferior to solid media for isolation of cultures representative of the phylum-level diversity of soil bacteria

L Schoenborn, PS Yates, BE Grinton, P Hugenholtz, PH Janssen

Journal article  |  2004  |  Applied and Environmental Microbiology

Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families

C Marini, IE Scheffer, KM Crossland, BE Grinton, FL Phillips, JM McMahon, SJ Turner, JT Dean, S Kivity, A Mazarib, MY Neufeld, AD Korczyn, LA Harkin, LM Dibbens, RH Wallace, JC Mulley, SF Berkovic

Journal article  |  2004  |  Epilepsia

Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

SF Berkovic, SE Heron, L Giordano, C Marini, R Guerrini, RE Kaplan, A Gambardella, OK Steinlein, BE Grinton, JT Dean, L Bordo, BL Hodgson, T Yamamoto, JC Mulley, F Zara, IE Scheffer

Journal article  |  2004  |  Annals of Neurology

Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction

MC Richards, SE Heron, HE Spendlove, IE Scheffer, B Grinton, SF Berkovic, JC Mulley, A Davy

Journal article  |  2004  |  Journal of Medical Genetics

The health-related quality of life of childhood epilepsy syndromes

M Sabaz, DR Cairns, AF Bleasel, JA Lawson, B Grinton, IE Scheffer, AME Bye

Journal article  |  2003  |  Journal of Paediatrics and Child Health

Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

J Mulley, R Wallace, B Hodgson, B Grinton, R Gardiner, R Robinson, V Rodriguez-Casero, L Sadlier, J Morgan, L Harkin, L Dibbens, T Yamamoto, E Andermann, S Berkovic, I Scheffer

Conference Proceedings  |  2003  |  AMERICAN JOURNAL OF HUMAN GENETICS

Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms

RH Wallace, BL Hodgson, BE Grinton, RM Gardiner, R Robinson, V Rodriguez-Casero, L Sadleir, J Morgan, LA Harkin, LM Dibbens, T Yamamoto, E Andermann, JC Mulley, SF Berkovic, IE Scheffer

Journal article  |  2003  |  Neurology

Improved culturability of soil bacteria and isolation in pure culture of novel members of the divisions Acidobacteria, Actinobacteria, Proteobacteria, and Verrucomicrobia

PH Janssen, PS Yates, BE Grinton, PM Taylor, M Sait

Journal article  |  2002  |  Applied and Environmental Microbiology