Works by Berkovic, Samuel F

Results: 254
    1

    Improving genetic diagnostic yield in familial and sporadic cerebral cavernous malformations: detection of copy number and deep Intronic variants Open Access.

    Published in:
    Human Molecular Genetics, 2025, v. 34, n. 15, p. 1286, doi. 10.1093/hmg/ddaf077
    By:
    • Sikta, Neblina;
    • Gooley, Samuel;
    • Green, Timothy E;
    • Hoeper, Olivia;
    • Witkowski, Tom;
    • Bennett, Caitlin;
    • Francis, David;
    • Reid, Joshua;
    • Mao, Kevin;
    • Awad, Mohammed;
    • Roberts-Thomson, Samuel;
    • Bulluss, Kristian;
    • Clark, Jonathan;
    • Scheffer, Ingrid E;
    • Perucca, Piero;
    • Bennett, Mark F;
    • Bahlo, Melanie;
    • Berkovic, Samuel F;
    • Hildebrand, Michael S
    Publication type:
    Article
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    SCN1A mutations and epilepsy.

    Published in:
    Human Mutation, 2005, v. 25, n. 6, p. 535, doi. 10.1002/humu.20178
    By:
    • Mulley, John C.;
    • Scheffer, Ingrid E.;
    • Petrou, Steven;
    • Dibbens, Leanne M.;
    • Berkovic, Samuel F.;
    • Harkin, Louise A.
    Publication type:
    Article
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    Interictal EEG and ECG for SUDEP Risk Assessment: A Retrospective Multicenter Cohort Study.

    Published in:
    Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.858333
    By:
    • Chen, Zhe Sage;
    • Hsieh, Aaron;
    • Sun, Guanghao;
    • Bergey, Gregory K.;
    • Berkovic, Samuel F.;
    • Perucca, Piero;
    • D'Souza, Wendyl;
    • Elder, Christopher J.;
    • Farooque, Pue;
    • Johnson, Emily L.;
    • Barnard, Sarah;
    • Nightscales, Russell;
    • Kwan, Patrick;
    • Moseley, Brian;
    • O'Brien, Terence J.;
    • Sivathamboo, Shobi;
    • Laze, Juliana;
    • Friedman, Daniel;
    • Devinsky, Orrin
    Publication type:
    Article
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    The clinical spectrum of SMA‐PME and in vitro normalization of its cellular ceramide profile.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 12, p. 1941, doi. 10.1002/acn3.51687
    By:
    • Lee, Michelle M.;
    • McDowell, Graeme S. V.;
    • De Vivo, Darryl C.;
    • Friedman, Daniel;
    • Berkovic, Samuel F.;
    • Spanou, Maria;
    • Dinopoulos, Argirios;
    • Grand, Katheryn;
    • Sanchez‐Lara, Pedro A.;
    • Allen‐Sharpley, Michelle;
    • Warman‐Chardon, Jodi;
    • Solyom, Alexander;
    • Levade, Thierry;
    • Schuchman, Edward H.;
    • Bennett, Steffany A. L.;
    • Dyment, David A.;
    • Pearson, Toni S.
    Publication type:
    Article
    7

    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
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    Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
    By:
    • Lee, Wei Shern;
    • Stephenson, Sarah E. M.;
    • Howell, Katherine B.;
    • Pope, Kate;
    • Gillies, Greta;
    • Wray, Alison;
    • Maixner, Wirginia;
    • Mandelstam, Simone A.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • MacGregor, Duncan;
    • Harvey, Anthony Simon;
    • Lockhart, Paul J.;
    • Leventer, Richard J.
    Publication type:
    Article
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    Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
    By:
    • Scerri, Thomas;
    • Riseley, Jessica R.;
    • Gillies, Greta;
    • Pope, Kate;
    • Burgess, Rosemary;
    • Mandelstam, Simone A.;
    • Dibbens, Leanne;
    • Chow, Chung W.;
    • Maixner, Wirginia;
    • Harvey, Anthony Simon;
    • Jackson, Graeme D.;
    • Amor, David J.;
    • Delatycki, Martin B.;
    • Crino, Peter B.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Lockhart, Paul J.;
    • Leventer, Richard J.
    Publication type:
    Article
    12

    Loss of synaptic Zn<sup>2+</sup> transporter function increases risk of febrile seizures.

    Published in:
    Scientific Reports, 2015, p. 17816, doi. 10.1038/srep17816
    By:
    • Hildebrand, Michael S.;
    • Phillips, A. Marie;
    • Mullen, Saul A.;
    • Adlard, Paul A.;
    • Hardies, Katia;
    • Damiano, John A.;
    • Wimmer, Verena;
    • Bellows, Susannah T.;
    • McMahon, Jacinta M.;
    • Burgess, Rosemary;
    • Hendrickx, Rik;
    • Weckhuysen, Sarah;
    • Suls, Arvid;
    • De Jonghe, Peter;
    • Scheffer, Ingrid E.;
    • Petrou, Steven;
    • Berkovic, Samuel F.;
    • Reid, Christopher A.
    Publication type:
    Article
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    Axon initial segment dysfunction in epilepsy.

    Published in:
    Journal of Physiology, 2010, v. 588, n. 11, p. 1829, doi. 10.1113/jphysiol.2010.188417
    By:
    • Wimmer, Verena C.;
    • Reid, Christopher A.;
    • So, Eva Y.-W.;
    • Berkovic, Samuel F.;
    • Petrou, Steven
    Publication type:
    Article
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    Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

    Published in:
    Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
    By:
    • Ha, Thuong T.;
    • Burgess, Rosemary;
    • Newman, Morgan;
    • Moey, Ching;
    • Mandelstam, Simone A.;
    • Gardner, Alison E.;
    • Ivancevic, Atma M.;
    • Pham, Duyen;
    • Kumar, Raman;
    • Smith, Nicholas;
    • Patel, Chirag;
    • Malone, Stephen;
    • Ryan, Monique M.;
    • Calvert, Sophie;
    • van Eyk, Clare L.;
    • Lardelli, Michael;
    • Berkovic, Samuel F.;
    • Leventer, Richard J.;
    • Richards, Linda J.;
    • Scheffer, Ingrid E.
    Publication type:
    Article
    18

    Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation.

    Published in:
    Journal of Neuroscience, 2007, v. 27, n. 38, p. 10128, doi. 10.1523/JNEUROSCI.3042-07.2007
    By:
    • Teper, Yaroslav;
    • Whyte, Douglas;
    • Cahir, Elizabeth;
    • Lester, Henry A.;
    • Grady, Sharon R.;
    • Marks, Michael J.;
    • Cohen, Bruce N.;
    • Fonck, Carlos;
    • McClure-Begley, Tristan;
    • McIntosh, J. Michael;
    • Labarca, Cesar;
    • Lawrence, Andrew;
    • Feng Chen;
    • Gantois, Ilse;
    • Davies, Philip J.;
    • Petrou, Steven;
    • Murphy, Mark;
    • Waddington, John;
    • Horne, Malcolm K.;
    • Berkovic, Samuel F.
    Publication type:
    Article
    19

    Reply.

    Published in:
    Annals of Neurology, 2002, v. 52, n. 6, p. 862, doi. 10.1002/ana.10412
    By:
    • Briellmann, Regula S.;
    • Syngeniotis, Ari;
    • Berkovic, Samuel F;
    • Jackson, Graeme D
    Publication type:
    Article
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    Locus for febrile seizures.

    Published in:
    2000
    By:
    • Scheffer, Ingrid E.;
    • Wallace, Robyn H.;
    • Mulley, John C.;
    • Berkovic, Samuel F.;
    • Scheffer, I E;
    • Wallace, R H;
    • Mulley, J C;
    • Berkovic, S F
    Publication type:
    commentary
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    Mitochondrial dysfunction in multiple symmetrical lipomatosis.

    Published in:
    Annals of Neurology, 1991, v. 29, n. 5, p. 566, doi. 10.1002/ana.410290519
    By:
    • Berkovic, Samuel F.;
    • Andermann, Frederick;
    • Shoubridge, Eric A.;
    • Carpenter, Stirling;
    • Robitaille, Yvon;
    • Andermann, Eva;
    • Melmed, Calvin;
    • Karpati, George
    Publication type:
    Article
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    Evaluation of non-coding variation in GLUT1 deficiency.

    Published in:
    2016
    By:
    • Liu, Yu‐Chi;
    • Lee, Jia Wei Audrey;
    • Bellows, Susannah T;
    • Damiano, John A;
    • Mullen, Saul A;
    • Berkovic, Samuel F;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Ryan, Monique M.;
    • Leventer, Richard J.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Hayman, Michael;
    • Rodriguez‐Casero, Victoria;
    • Subramanian, Gopi;
    • Webster, Richard;
    • Sadleir, Lynette G.
    Publication type:
    journal article
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    A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

    Published in:
    Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
    By:
    • Muona, Mikko;
    • Tinuper, Paolo;
    • Licchetta, Laura;
    • Scheffer, Ingrid E;
    • Criscuolo, Chiara;
    • Filla, Alessandro;
    • Ferlazzo, Edoardo;
    • Ahmad, Jamil;
    • Ahmad, Adeel;
    • Baykan, Betul;
    • Said, Edith;
    • Topcu, Meral;
    • King, Mary D;
    • Berkovic, Samuel F;
    • Oliver, Karen L;
    • Hildebrand, Michael S;
    • Ozkara, Cigdem;
    • Andrade, Danielle M;
    • Engelsen, Bernt A;
    • Crespel, Arielle
    Publication type:
    Article
    41

    GRIN2A mutations cause epilepsy-aphasia spectrum disorders.

    Published in:
    Nature Genetics, 2013, v. 45, n. 9, p. 1073, doi. 10.1038/ng.2727
    By:
    • Carvill, Gemma L;
    • Regan, Brigid M;
    • Yendle, Simone C;
    • O'Roak, Brian J;
    • Lozovaya, Natalia;
    • Bruneau, Nadine;
    • Burnashev, Nail;
    • Khan, Adiba;
    • Cook, Joseph;
    • Geraghty, Eileen;
    • Sadleir, Lynette G;
    • Turner, Samantha J;
    • Tsai, Meng-Han;
    • Webster, Richard;
    • Ouvrier, Robert;
    • Damiano, John A;
    • Berkovic, Samuel F;
    • Shendure, Jay;
    • Hildebrand, Michael S;
    • Szepetowski, Pierre
    Publication type:
    Article
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    Genetics of the Epilepsies.

    Published in:
    Epilepsia (Series 4), 2001, v. 42, p. 16, doi. 10.1111/j.1528-1167.2001.0s003.x
    By:
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.
    Publication type:
    Article
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    Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

    Published in:
    Human Mutation, 2021, v. 42, n. 8, p. 1030, doi. 10.1002/humu.24237
    By:
    • Pham, Duyen H.;
    • Pitman, Melissa R.;
    • Kumar, Raman;
    • Jolly, Lachlan A.;
    • Schulz, Renee;
    • Gardner, Alison E.;
    • Nys, Rebekah;
    • Heron, Sarah E.;
    • Corbett, Mark A.;
    • Kothur, Kavitha;
    • Gill, Deepak;
    • Rajagopalan, Sulekha;
    • Kolc, Kristy L.;
    • Halliday, Benjamin J.;
    • Robertson, Stephen P.;
    • Regan, Brigid M.;
    • Kirsch, Heidi E.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Pitson, Stuart M.
    Publication type:
    Article