Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
Heron, S E, Cox, K, Grinton, B E, Zuberi, S M, Kivity, S, Afawi, Z, Straussberg, R, Berkovic, S F, Scheffer, I E, Mulley, J C
Published in Journal of medical genetics (01.12.2007)
Published in Journal of medical genetics (01.12.2007)
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Journal Article
Improved Culturability of Soil Bacteria and Isolation in Pure Culture of Novel Members of the Divisions Acidobacteria, Actinobacteria, Proteobacteria, and Verrucomicrobia
JANSSEN, Peter H, YATES, Penelope S, GRINTON, Bronwyn E, TAYLOR, Paul M, SAIT, Michelle
Published in Applied and Environmental Microbiology (01.05.2002)
Published in Applied and Environmental Microbiology (01.05.2002)
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Journal Article
Familial clustering of seizure types within the idiopathic generalized epilepsies
Winawer, M R, Marini, C, Grinton, B E, Rabinowitz, D, Berkovic, S F, Scheffer, I E, Ottman, R
Published in Neurology (23.08.2005)
Published in Neurology (23.08.2005)
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Journal Article
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction
Richards, M C, Heron, S E, Spendlove, H E, Scheffer, I E, Grinton, B, Berkovic, S F, Mulley, J C, Davy, A
Published in Journal of medical genetics (01.03.2004)
Published in Journal of medical genetics (01.03.2004)
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Journal Article
The health-related quality of life of childhood epilepsy syndromes
Sabaz, M, Cairns, DR, Bleasel, AF, Lawson, JA, Grinton, B, Scheffer, IE, Bye, AME
Published in Journal of paediatrics and child health (01.12.2003)
Published in Journal of paediatrics and child health (01.12.2003)
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Journal Article
Liquid serial dilution is inferior to solid media for isolation of cultures representative of the phylum-level diversity of soil bacteria
Schoenborn, L, Yates, P.S, Grinton, B.E, Hugenholtz, P, Janssen, P.H
Published in Applied and Environmental Microbiology (01.07.2004)
Published in Applied and Environmental Microbiology (01.07.2004)
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Journal Article
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
Scheffer, Ingrid E, Grinton, Bronwyn E, Heron, Sarah E, Kivity, Sara, Afawi, Zaid, Iona, Xenia, Goldberg-Stern, Hadassa, Kinali, Maria, Andrews, Ian, Guerrini, Renzo, Marini, Carla, Sadleir, Lynette G, Berkovic, Samuel F, Dibbens, Leanne M
Published in Neurology (20.11.2012)
Published in Neurology (20.11.2012)
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Journal Article
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations
Scheffer, Ingrid E., Harkin, Louise A., Grinton, Bronwyn E., Dibbens, Leanne M., Turner, Samantha J., Zielinski, Marta A., Xu, Ruwei, Jackson, Graeme, Adams, Judith, Connellan, Mary, Petrou, Steven, Wellard, R. Mark, Briellmann, Regula S., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.
Published in Brain (London, England : 1878) (01.01.2007)
Published in Brain (London, England : 1878) (01.01.2007)
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Journal Article
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance
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.
Published in Brain (London, England : 1878) (01.11.2010)
Published in Brain (London, England : 1878) (01.11.2010)
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Journal Article
In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission
TOMLINSON, Susan E, BOSTOCK, Hugh, GRINTON, Bronwyn, HANNA, Michael G, KULLMANN, Dimitri M, KIERNAN, Matthew C, SCHEFFER, Ingrid E, BERKOVIC, Samuel F, BURKE, David
Published in Brain (London, England : 1878) (01.10.2012)
Published in Brain (London, England : 1878) (01.10.2012)
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Journal Article
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gécz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
Berkovic, Samuel F., Heron, Sarah E., Giordano, Lucio, Marini, Carla, Guerrini, Renzo, Kaplan, Robert E., Gambardella, Antonio, Steinlein, Ortrud K., Grinton, Bronwyn E., Dean, Joanne T., Bordo, Laura, Hodgson, Bree L., Yamamoto, Toshiyuki, Mulley, John C., Zara, Federico, Scheffer, Ingrid E.
Published in Annals of neurology (01.04.2004)
Published in Annals of neurology (01.04.2004)
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Journal Article
Benign familial neonatal-infantile seizures: The mutational and phenotypic spectrum
Heron, S, Grinton, B, Herlenius, E, Keay, D, Kron, K, Mulley, J, Scheffer, I, Berkovic, S
Published in EPILEPSIA (2007)
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Published in EPILEPSIA (2007)
Conference Proceeding
Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families
Marini, Carla, Scheffer, Ingrid E., Crossland, Kathryn M., Grinton, Bronwyn E., Phillips, Fiona L., McMahon, Jacinta M., Turner, Samantha J., Dean, Joanne T., Kivity, Sara, Mazarib, Aziz, Neufeld, Miriam Y., Korczyn, Amos D., Harkin, Louise A., Dibbens, Leanne M., Wallace, Robyn H., Mulley, John C., Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.05.2004)
Published in Epilepsia (Copenhagen) (01.05.2004)
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Journal Article
Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms
Wallace, R H, Hodgson, B L, Grinton, B E, Gardiner, R M, Robinson, R, Rodriguez-Casero, V, Sadleir, L, Morgan, J, Harkin, L A, Dibbens, L M, Yamamoto, T, Andermann, E, Mulley, J C, Berkovic, S F, Scheffer, I E
Published in Neurology (23.09.2003)
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Published in Neurology (23.09.2003)
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