Genes4Epilepsy: An epilepsy gene resource
Oliver, Karen L., Scheffer, Ingrid E., Bennett, Mark F., Grinton, Bronwyn E., Bahlo, Melanie, Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.05.2023)
Published in Epilepsia (Copenhagen) (01.05.2023)
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Journal Article
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
Heron, Sarah E, Smith, Katherine R, Bahlo, Melanie, Nobili, Lino, Kahana, Esther, Licchetta, Laura, Oliver, Karen L, Mazarib, Aziz, Afawi, Zaid, Korczyn, Amos, Plazzi, Giuseppe, Petrou, Steven, Berkovic, Samuel F, Scheffer, Ingrid E, Dibbens, Leanne M
Published in Nature genetics (01.11.2012)
Published in Nature genetics (01.11.2012)
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Journal Article
Contrasting evolutionary genome dynamics between domesticated and wild yeasts
Yue, Jia-Xing, Li, Jing, Aigrain, Louise, Hallin, Johan, Persson, Karl, Oliver, Karen, Bergström, Anders, Coupland, Paul, Warringer, Jonas, Lagomarsino, Marco Cosentino, Fischer, Gilles, Durbin, Richard, Liti, Gianni
Published in Nature genetics (01.06.2017)
Published in Nature genetics (01.06.2017)
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Journal Article
IRF2BPL: A new genotype for progressive myoclonus epilepsies
Costa, Cinzia, Oliver, Karen L., Calvello, Carmen, Cameron, Jillian M., Imperatore, Valentina, Tonelli, Laura, Colavito, Davide, Franceschetti, Silvana, Canafoglia, Laura, Berkovic, Samuel F., Prontera, Paolo
Published in Epilepsia (Copenhagen) (01.08.2023)
Published in Epilepsia (Copenhagen) (01.08.2023)
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Journal Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, Mikko, Berkovic, Samuel F, Dibbens, Leanne M, Oliver, Karen L, Maljevic, Snezana, Bayly, Marta A, Joensuu, Tarja, Canafoglia, Laura, Franceschetti, Silvana, Michelucci, Roberto, Markkinen, Salla, Heron, Sarah E, Hildebrand, Michael S, Andermann, Eva, Andermann, Frederick, Gambardella, Antonio, Tinuper, Paolo, Licchetta, Laura, Scheffer, Ingrid E, Criscuolo, Chiara, Filla, Alessandro, Ferlazzo, Edoardo, Ahmad, Jamil, Ahmad, Adeel, Baykan, Betul, Said, Edith, Topcu, Meral, Riguzzi, Patrizia, King, Mary D, Ozkara, Cigdem, Andrade, Danielle M, Engelsen, Bernt A, Crespel, Arielle, Lindenau, Matthias, Lohmann, Ebba, Saletti, Veronica, Massano, João, Privitera, Michael, Espay, Alberto J, Kauffmann, Birgit, Duchowny, Michael, Møller, Rikke S, Straussberg, Rachel, Afawi, Zaid, Ben-Zeev, Bruria, Samocha, Kaitlin E, Daly, Mark J, Petrou, Steven, Lerche, Holger, Palotie, Aarno, Lehesjoki, Anna-Elina
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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Journal Article
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation
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, Kaila, Kai
Published in EMBO reports (01.06.2014)
Published in EMBO reports (01.06.2014)
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Journal Article
Centering culture in the treatment of opioid use disorder with American Indian and Alaska Native Communities: Contributions from a National Collaborative Board
Hirchak, Katherine A., Nadeau, Melanie, Vasquez, Angel, Hernandez‐Vallant, Alexandra, Smith, Kyle, Pham, Cuong, Oliver, Karen Anderson, Baukol, Paulette, Lizzy, Karen, Shaffer, Racquel, Herron, Jalene, Campbell, Aimee N. C., Venner, Kamilla L.
Published in American journal of community psychology (01.03.2023)
Published in American journal of community psychology (01.03.2023)
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Journal Article
Inflation of polygenic risk scores caused by sample overlap and relatedness: Examples of a major risk of bias
Ellis, Colin A., Oliver, Karen L., Harris, Rebekah V., Ottman, Ruth, Scheffer, Ingrid E., Mefford, Heather C., Epstein, Michael P., Berkovic, Samuel F., Bahlo, Melanie
Published in American journal of human genetics (05.09.2024)
Published in American journal of human genetics (05.09.2024)
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Journal Article
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina
Published in American journal of human genetics (01.04.2021)
Published in American journal of human genetics (01.04.2021)
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Journal Article
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genes
Oliver, Karen L, Lukic, Vesna, Thorne, Natalie P, Berkovic, Samuel F, Scheffer, Ingrid E, Bahlo, Melanie
Published in PloS one (09.07.2014)
Published in PloS one (09.07.2014)
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Journal Article
Familial aggregation of seizure outcomes in four familial epilepsy cohorts
Ellis, Colin A., Tu, Danni, Oliver, Karen L., Mefford, Heather C., Hauser, W. Allen, Buchhalter, Jeffrey, Epstein, Michael P., Cao, Quy, Berkovic, Samuel F., Ottman, Ruth
Published in Epilepsia (Copenhagen) (01.07.2024)
Published in Epilepsia (Copenhagen) (01.07.2024)
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Journal Article
Recovery and reactivity of polycyclic aromatic hydrocarbons collected on selected sorbent tubes and analyzed by thermal desorption-gas chromatography/mass spectrometry
Wallace, M. Ariel Geer, Pleil, Joachim D., Whitaker, Donald A., Oliver, Karen D.
Published in Journal of Chromatography A (27.09.2019)
Published in Journal of Chromatography A (27.09.2019)
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Journal Article
Genomics of cold adaptations in the Antarctic notothenioid fish radiation
Bista, Iliana, Wood, Jonathan M. D., Desvignes, Thomas, McCarthy, Shane A., Matschiner, Michael, Ning, Zemin, Tracey, Alan, Torrance, James, Sims, Ying, Chow, William, Smith, Michelle, Oliver, Karen, Haggerty, Leanne, Salzburger, Walter, Postlethwait, John H., Howe, Kerstin, Clark, Melody S., William Detrich, H., Christina Cheng, C.-H., Miska, Eric A., Durbin, Richard
Published in Nature communications (09.06.2023)
Published in Nature communications (09.06.2023)
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Journal Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture
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, Berkovic, Samuel F.
Published in Annals of neurology (01.11.2023)
Published in Annals of neurology (01.11.2023)
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Journal Article
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features
Balestrini, Simona, Milh, Mathieu, Castiglioni, Claudia, Lüthy, Kevin, Finelli, Mattea J, Verstreken, Patrik, Cardon, Aaron, Stražišar, Barbara Gnidovec, Holder, Jr, J Lloyd, Lesca, Gaetan, Mancardi, Maria M, Poulat, Anne L, Repetto, Gabriela M, Banka, Siddharth, Bilo, Leonilda, Birkeland, Laura E, Bosch, Friedrich, Brockmann, Knut, Cross, J Helen, Doummar, Diane, Félix, Temis M, Giuliano, Fabienne, Hori, Mutsuki, Hüning, Irina, Kayserili, Hulia, Kini, Usha, Lees, Melissa M, Meenakshi, Girish, Mewasingh, Leena, Pagnamenta, Alistair T, Peluso, Silvio, Mey, Antje, Rice, Gregory M, Rosenfeld, Jill A, Taylor, Jenny C, Troester, Matthew M, Stanley, Christine M, Ville, Dorothee, Walkiewicz, Magdalena, Falace, Antonio, Fassio, Anna, Lemke, Johannes R, Biskup, Saskia, Tardif, Jessica, Ajeawung, Norbert F, Tolun, Aslihan, Corbett, Mark, Gecz, Jozef, Afawi, Zaid, Howell, Katherine B, Oliver, Karen L, Berkovic, Samuel F, Scheffer, Ingrid E, de Falco, Fabrizio A, Oliver, Peter L, Striano, Pasquale, Zara, Federico, Campeau, Phillipe M, Sisodiya, S M
Published in Neurology (05.07.2016)
Published in Neurology (05.07.2016)
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Journal Article
Recognition and epileptology of protracted CLN3 disease
Cameron, Jillian M., Damiano, John A., Grinton, Bronwyn, Carney, Patrick W., McKelvie, Penny, Silbert, Peter, Lawn, Nicholas, Scheffer, Ingrid E., Oliver, Karen L., Hildebrand, Michael S., Berkovic, Samuel F.
Published in Epilepsia (Copenhagen) (01.07.2023)
Published in Epilepsia (Copenhagen) (01.07.2023)
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Journal Article
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
Oliver, Karen L., Trivisano, Marina, Mandelstam, Simone A., De Dominicis, Angela, Francis, David I., Green, Timothy E., Muir, Alison M., Chowdhary, Apoorva, Hertzberg, Christoph, Goldhahn, Klaus, Metreau, Julia, Prager, Christine, Pinner, Jason, Cardamone, Michael, Myers, Kenneth A., Leventer, Richard J., Lesca, Gaetan, Bahlo, Melanie, Hildebrand, Michael S., Mefford, Heather C., Kaindl, Angela M., Specchio, Nicola, Scheffer, Ingrid E.
Published in Epilepsia (Copenhagen) (01.05.2023)
Published in Epilepsia (Copenhagen) (01.05.2023)
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Journal Article
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties
Oliver, Karen L., Franceschetti, Silvana, Milligan, Carol J., Muona, Mikko, Mandelstam, Simone A., Canafoglia, Laura, Boguszewska‐Chachulska, Anna M., Korczyn, Amos D., Bisulli, Francesca, Bonaventura, Carlo, Ragona, Francesca, Michelucci, Roberto, Ben‐Zeev, Bruria, Straussberg, Rachel, Panzica, Ferruccio, Massano, João, Friedman, Daniel, Crespel, Arielle, Engelsen, Bernt A., Andermann, Frederick, Andermann, Eva, Spodar, Krystyna, Lasek‐Bal, Anetta, Riguzzi, Patrizia, Pasini, Elena, Tinuper, Paolo, Licchetta, Laura, Gardella, Elena, Lindenau, Matthias, Wulf, Annette, Møller, Rikke S., Benninger, Felix, Afawi, Zaid, Rubboli, Guido, Reid, Christopher A., Maljevic, Snezana, Lerche, Holger, Lehesjoki, Anna‐Elina, Petrou, Steven, Berkovic, Samuel F.
Published in Annals of neurology (01.05.2017)
Published in Annals of neurology (01.05.2017)
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Journal Article
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
Francis, David I, Stark, Zornitza, Scheffer, Ingrid E, Tan, Tiong Yang, Murali, Krithika, Gallacher, Lyndon, Amor, David J, Goel, Himanshu, Downie, Lilian, Stutterd, Chloe A, Krzesinski, Emma I, Vasudevan, Anand, Oertel, Ralph, Petrovic, Vida, Boys, Amber, Wei, Vivian, Burgess, Trent, Dun, Karen, Oliver, Karen L, Baxter, Anne, Hackett, Anna, Ayres, Samantha, Lunke, Sebastian, Kalitsis, Paul, Wall, Meaghan
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Journal Article
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure
Grinton, Bronwyn E., Robertson, Erandee, Fearnley, Liam G., Scheffer, Ingrid E., Marson, Anthony G., O’Brien, Terence J., Pickrell, W. Owen, Rees, Mark I., Sisodiya, Sanjay M., Balding, David J., Bennett, Mark F., Bahlo, Melanie, Berkovic, Samuel F., Oliver, Karen L.
Published in American journal of human genetics (03.11.2022)
Published in American journal of human genetics (03.11.2022)
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