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3. Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture

Author

Harris, Rebekah V, primary, Oliver, Karen L, additional, Perucca, Piero, additional, Striano, Pasquale, additional, Labate, Angelo, additional, Riva, Antonella, additional, Grinton, Bronwyn E, additional, Reid, Joshua, additional, Hutton, Jessica, additional, Todaro, Marian, additional, O'Brien, Terence J, additional, Kwan, Patrick, additional, Sadleir, Lynette G, additional, Mullen, Saul A, additional, Dazzo, Emanuela, additional, Crompton, Douglas E, additional, Scheffer, Ingrid E, additional, Bahlo, Melanie, additional, Nobile, Carlo, additional, Gambardella, Antonio, additional, and Berkovic, Samuel F, additional

Published
2023
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5. A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

Author

Grinton, Bronwyn E., primary, Robertson, Erandee, additional, Fearnley, Liam G., additional, Scheffer, Ingrid E., additional, Marson, Anthony G., additional, O’Brien, Terence J., additional, Pickrell, W. Owen, additional, Rees, Mark I., additional, Sisodiya, Sanjay M., additional, Balding, David J., additional, Bennett, Mark F., additional, Bahlo, Melanie, additional, Berkovic, Samuel F., additional, and Oliver, Karen L., additional

Published
2022
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6. Genetic epilepsy with febrile seizures plus: Refining the spectrum

Author

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

Published
2017
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7. Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Author

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

Published
2015
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8. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Author

Heron, Sarah E., primary, Regan, Brigid M., additional, Harris, Rebekah V., additional, Gardner, Alison E., additional, Coleman, Matthew J., additional, Bennett, Mark F., additional, Grinton, Bronwyn E., additional, Helbig, Katherine L., additional, Sperling, Michael R., additional, Haut, Sheryl, additional, Geller, Eric B., additional, Widdess-Walsh, Peter, additional, Pelekanos, James T., additional, Bahlo, Melanie, additional, Petrovski, Slavé, additional, Heinzen, Erin L., additional, Hildebrand, Michael S., additional, Corbett, Mark A., additional, Scheffer, Ingrid E., additional, Gécz, Jozef, additional, and Berkovic, Samuel F., additional

Published
2021
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9. Improved culturability of soil bacteria and isolation in pure culture of novel members of the divisions Acidobacteria, Actinobacteria, Proteobacteria, and Verrucomicrobia

Author

Janssen, Peter H., Yates, Penelope S., Grinton, Bronwyn E., Taylor, Paul M., and Sait, Michelle

Subjects
Soil microbiology -- Research, Cultures (Biology) -- Research, Biological sciences
Abstract

Researchers show that it is possible to culture soil bacteria that have been considered nonculturable under the right conditions. They used nutrient broth at 1/100 of its normal concentration solidified with gellan gum and identified 30 isolates corresponding to new lineages within the Actinobacteria, Acidobacteria, Proteobacteria, and Verrucomicrobia.

Published
2002

15. Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations

Author

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., and Berkovic, Samuel F.

Published
2007

18. Association of Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.

Author

Heron, Sarah E, Regan, Brigid M, Harris, Rebekah V, Gardner, Alison E, Coleman, Matthew J, Bennett, Mark F, Grinton, Bronwyn E, Helbig, Katherine L, Sperling, Michael R, Haut, Sheryl, Geller, Eric B, Widdess-Walsh, Peter, Pelekanos, James T, Bahlo, Melanie, Petrovski, Slavé, Heinzen, Erin L, Hildebrand, Michael S, Corbett, Mark A, Scheffer, Ingrid E, and Gécz, Jozef

Published
2021
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19. Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

Author

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

Published
2019
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20. Association of SLC32A1Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

Author

Heron, Sarah E., Regan, Brigid M., Harris, Rebekah V., Gardner, Alison E., Coleman, Matthew J., Bennett, Mark F., Grinton, Bronwyn E., Helbig, Katherine L., Sperling, Michael R., Haut, Sheryl, Geller, Eric B., Widdess-Walsh, Peter, Pelekanos, James T., Bahlo, Melanie, Petrovski, Slavé, Heinzen, Erin L., Hildebrand, Michael S., Corbett, Mark A., Scheffer, Ingrid E., Gécz, Jozef, and Berkovic, Samuel F.

Published
2021
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22. Liquid serial dilution is inferior to solid media for isolation of cultures representative of the phylum-level diversity of soil bacteria

Author

Schoeborn, Liesbeth, Yates, Penelope S., Hugenholtz, Philip, Grinton, Bronwyn E., and Janssen, Peter H.

Subjects
Microbiology -- Research, Bacteria -- Research, Soil microbiology -- Research, Biological sciences
Abstract

The agents of the four well classified bacterial phyla were separated from the agricultural soil with the help of the liquid serial dilution culture. A study that was conducted indicates that the liquid serial dilution culture was inferior to the solid media culture for separating the agents of the various bacterial phyla from soil.

Published
2004

23. Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Author

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

Published
2017
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24. A variant of KCC 2 from patients with febrile seizures impairs neuronal Cl − extrusion and dendritic spine formation

Author

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

Published
2014
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25. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Author

Heron, Sarah E., primary, Grinton, Bronwyn E., additional, Kivity, Sara, additional, Afawi, Zaid, additional, Zuberi, Sameer M., additional, Hughes, James N., additional, Pridmore, Clair, additional, Hodgson, Bree L., additional, Iona, Xenia, additional, Sadleir, Lynette G., additional, Pelekanos, James, additional, Herlenius, Eric, additional, Goldberg-Stern, Hadassa, additional, Bassan, Haim, additional, Haan, Eric, additional, Korczyn, Amos D., additional, Gardner, Alison E., additional, Corbett, Mark A., additional, Gécz, Jozef, additional, Thomas, Paul Q., additional, Mulley, John C., additional, Berkovic, Samuel F., additional, Scheffer, Ingrid E., additional, and Dibbens, Leanne M., additional

Published
2012
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27. Comment

Author

Grinton, Bronwyn E., primary, Scheffer, Ingrid E., additional, and Berkovic, Samuel F., additional

Published
2006
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29. Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy

Author

Berkovic, Samuel F., primary, Heron, Sarah E., additional, Giordano, Lucio, additional, Marini, Carla, additional, Guerrini, Renzo, additional, Kaplan, Robert E., additional, Gambardella, Antonio, additional, Steinlein, Ortrud K., additional, Grinton, Bronwyn E., additional, Dean, Joanne T., additional, Bordo, Laura, additional, Hodgson, Bree L., additional, Yamamoto, Toshiyuki, additional, Mulley, John C., additional, Zara, Federico, additional, and Scheffer, Ingrid E., additional

Published
2004
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30. A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation.

Author

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

Abstract

Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease. Screening of SLC12A5 revealed a co-segregating variant ( KCC2-R952H) in an Australian family with febrile seizures. We show that KCC2-R952H reduces neuronal Cl− extrusion and has a compromised ability to induce dendritic spines in vivo and in vitro. Biochemical analyses indicate a reduced surface expression of KCC2-R952H which likely contributes to the functional deficits. Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures. [ABSTRACT FROM AUTHOR]

Published
2014
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32. Clinical Research Genetic Architecture of Idiopathic Generalized Epilepsy: Clinical Genetic Analysis of 55 Multiplex Families.

Author

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., and Berkovic, Samuel F.

Subjects
GENETICS of epilepsy, BRAIN diseases, IDIOPATHIC femoral necrosis, HEREDITY, CLINICAL medicine, NEUROPSYCHOLOGY
Abstract

Purpose: In families with idiopathic generalized epilepsy (IGE), multiple IGE subsyndromes may occur. We performed a genetic study of IGE families to clarify the genetic relation of the IGE subsyndromes and to improve understanding of the mode(s) of inheritance. Methods: Clinical and genealogic data were obtained on probands with IGE and family members with a history of seizures. Families were grouped according to the probands' IGE subsyndrome: childhood absence epilepsy (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and IGE with tonic-clonic seizures only (IGE-TCS). The subsyndromes in the relatives were analyzed. Mutations in genes encoding α1 and γ2 γ,-aminobutyric acid (GABA)-receptor subunits, α1 and β1 sodium channel subunits, and the chloride channel CLC-2 were sought. Results: Fifty-five families were studied. 122 (13%) of 937 first- and second-degree relatives had seizures. Phenotypic concordance within families of CAE and JME probands was 28 and 27%, respectively. JAE and IGE-TCS families had a much lower concordance (10 and 13%), and in the JAE group, 31% of relatives had CAE. JME was rare among affected relatives of CAE and JAE probands and vice versa. Mothers were more frequently affected than fathers. No GABA-receptor or sodium or chloride channel gene mutations were identified. Conclusions: The clinical genetic analysis of this set of families suggests that CAE and JAE share a close genetic relation, whereas JME is a more distinct entity. Febrile seizures and epilepsy with unclassified tonic-clonic seizures were frequent in affected relatives of all IGE individuals, perhaps representing a nonspecific susceptibility to seizures. A maternal effect also was seen. Our findings are consistent with an oligogenic model of inheritance. [ABSTRACT FROM AUTHOR]

Published
2004
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33. PRRT2phenotypic spectrum includes sporadic and fever-related infantile seizures

Author

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., and Dibbens, Leanne M.

Abstract

Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2mutations.

Published
2012
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34. A variant of <scp>KCC</scp> 2 from patients with febrile seizures impairs neuronal Cl − extrusion and dendritic spine formation

Author

Laszlo Vutskits, Martin Puskarjov, Xenia Iona, Faraz Ahmad, Karen Oliver, Sarah E. Heron, Bronwyn E. Grinton, Leanne M. Dibbens, Kai Kaila, Samuel F. Berkovic, Tristiana C. Williams, Ingrid E. Scheffer, Steven Petrou, Peter Blaesse, Patricia Seja, Biosciences, Physiology and Neuroscience (-2020), Neuroscience Center, Laboratory of Neurobiology, Puskarjov, Martin, Seja, Patricia, Heron, Sarah E, Williams, Tristiana C, Ahmad, Faraz, Iona, Xenia, Oliver, Karen L, Grinton, Bronwyn E, Vutskits, Laszlo, Scheffer, Ingrid E, Petrou, Steven, Dibbens, Leanne Michelle, Berkovic, Samuel F, and Kaila, Kai

Subjects
Models, Molecular, Dendritic spine, Protein Conformation, Dendritic Spines, KCC2, Blotting, Western, Molecular Sequence Data, Mutation, Missense, Hippocampus, genic intolerance, Biology, medicine.disease_cause, Bioinformatics, Biochemistry, Seizures, Febrile, Statistics, Nonparametric, Mice, Chlorides, In vivo, Genetics, medicine, Animals, Humans, febrile seizures, Genetic Predisposition to Disease, Amino Acid Sequence, Rats, Wistar, Molecular Biology, Neurons, Mice, Inbred ICR, Mutation, Symporters, Scientific Reports, Australia, dendritic spines, In vitro, Pedigree, Rats, 3. Good health, Cell biology, Microscopy, Fluorescence, Symporter, 1182 Biochemistry, cell and molecular biology, GABAergic, mutation, Cotransporter
Abstract

Genetic variation in SLC12A5 which encodes KCC2, the neuronspecific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease. Screening of SLC12A5 revealed a co-segregating variant (KCC2-R952H) in an Australian family with febrile seizures. We show that KCC2-R952H reduces neuronal Cl extrusion and has a compromised ability to induce dendritic spines in vivo and in vitro. Biochemical analyses indicate a reduced surface expression of KCC2-R952H which likely contributes to the functional deficits. Our data suggest that KCC2- R952H is a bona fide susceptibility variant for febrile seizures. Refereed/Peer-reviewed

Published
2014

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

Author

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

Subjects
genetic heterogeneity, genetic modifier, 15q13.3, copy number variant, clinical heterogeneity
Abstract

Incomplete penetrance and variable phenotypic expression are characteristic of a number of syndromes of familial epilepsy. The purpose of the present investigation is to determine if the 15q13.3 copy number deletion functions as a locus modifying the epilepsy phenotype caused by other known or presumed pathogenic mutations segregating in families with epilepsies. No 15q13.3 microdeletions were detected in 756 affected or definite obligate carrier individuals across 151 families selected on the basis of having multiple members affected with epilepsy and showing a range of seizure types. Therefore, the 15q13.3 microdeletion does not act as a genetic modifier in this cohort of families and is not responsible for any of the genetic heterogeneity hypothesized to account for failure to detect linkage in previous genome-wide scans in five of the larger families included in this study. Refereed/Peer-reviewed

Published
2011

36. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Author

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

Subjects
Proband, Pediatrics, medicine.medical_specialty, Pathology, Benign familial infantile epilepsy, business.industry, Benign neonatal seizures, Infantile convulsions and choreoathetosis, Paroxysmal dyskinesia, medicine.disease, Article, Epilepsy, infantile epilepsy, Epilepsy syndromes, medicine, Neurology (clinical), PRRT2 gene, business, PRRT2
Abstract

Objective: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2 , encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations. Methods: Forty-four probands with infantile-onset seizures, infantile convulsions with mild gastroenteritis, and benign neonatal seizures underwent detailed phenotyping and PRRT2 sequencing. The familial segregation of mutations identified in probands was studied. Results: The PRRT2 mutation c.649-650insC (p.R217fsX224) was identified in 11 probands. Nine probands had a family history of BFIE or ICCA. Two probands had no family history of infantile seizures or paroxysmal kinesigenic dyskinesia and had de novo PRRT2 mutations. Febrile seizures with or without afebrile seizures were observed in 2 families with PRRT2 mutations. Conclusions: PRRT2 mutations are present in >80% of BFIE and >90% ICCA families, but are not a common cause of other forms of infantile epilepsy. De novo mutations of PRRT2 can cause sporadic benign infantile seizures. Seizures with fever may occur in BFIE such that it may be difficult to distinguish BFIE from febrile seizures and febrile seizures plus in small families.

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

Author

Puskarjov M, Seja P, Heron SE, Williams TC, Ahmad F, Iona X, Oliver KL, Grinton BE, Vutskits L, Scheffer IE, Petrou S, Blaesse P, Dibbens LM, Berkovic SF, and Kaila K

Subjects
Amino Acid Sequence, Animals, Australia, Blotting, Western, Chlorides metabolism, Dendritic Spines genetics, Humans, Mice, Mice, Inbred ICR, Microscopy, Fluorescence, Molecular Sequence Data, Pedigree, Protein Conformation, Rats, Rats, Wistar, Statistics, Nonparametric, Symporters metabolism, K Cl- Cotransporters, Dendritic Spines pathology, Genetic Predisposition to Disease genetics, Models, Molecular, Mutation, Missense genetics, Neurons metabolism, Seizures, Febrile genetics, Symporters genetics
Abstract

Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease. Screening of SLC12A5 revealed a co-segregating variant (KCC2-R952H) in an Australian family with febrile seizures. We show that KCC2-R952H reduces neuronal Cl(-) extrusion and has a compromised ability to induce dendritic spines in vivo and in vitro. Biochemical analyses indicate a reduced surface expression of KCC2-R952H which likely contributes to the functional deficits. Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures., (© 2014 The Authors. Published under the terms of the CC BY NC ND license.)

Published
2014
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