Found: 255

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  • Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.

    Published in:
    2021
    By:
    • Green, Timothy E.;
    • MacGregor, Duncan;
    • Carden, Susan M.;
    • Harris, Rebekah V.;
    • Hewitt, Chelsee A.;
    • Berkovic, Samuel F.;
    • Penington, Anthony J.;
    • Scheffer, Ingrid E.;
    • Hildebrand, Michael S.
    Publication type:
    Case Study

  • 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

  • KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

    Published in:
    PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191546
    By:
    • Myers, Kenneth A.;
    • McGlade, Amelia;
    • Neubauer, Bernd A.;
    • Lal, Dennis;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Hildebrand, Michael S.
    Publication type:
    Article

  • Focal Epilepsy in Children With Tuberous Sclerosis Complex: Does Vigabatrin Control Focal Seizures?

    Published in:
    Journal of Child Neurology, 2022, v. 37, n. 5, p. 329, doi. 10.1177/08830738211048326
    By:
    • Lin, Sufang;
    • Liao, Jianxiang;
    • Zhao, Xia;
    • Hu, Yan;
    • Chen, Li;
    • Chen, Yan;
    • Liu, Guosheng;
    • Yao, Yi;
    • Su, Qiru;
    • Scheffer, Ingrid E.;
    • Wen, Feiqiu
    Publication type:
    Article

  • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

    Published in:
    Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
    By:
    • Dibbens, Leanne M.;
    • Mullen, Saul;
    • Helbig, Ingo;
    • Mefford, Heather C.;
    • Bayly, Marta A.;
    • Bellows, Susannah;
    • Leu, Costin;
    • Trucks, Holger;
    • Obermeier, Tanja;
    • Wittig, Michael;
    • Franke, Andre;
    • Caglayan, Hande;
    • Yapici, Zuhal;
    • Sander, Thomas;
    • Eichler, Evan E.;
    • Scheffer, Ingrid E.;
    • Mulley, John C.;
    • Berkovic, Samuel F.
    Publication type:
    Article

  • SRPX2 mutations in disorders of language cortex and cognition.

    Published in:
    Human Molecular Genetics, 2006, v. 15, n. 7, p. 1195, doi. 10.1093/hmg/ddl035
    By:
    • Roll, Patrice;
    • Rudolf, Gabrielle;
    • Pereira, Sandrine;
    • Royer, Barbara;
    • Scheffer, Ingrid E.;
    • Massacrier, Annick;
    • Valenti, Maria-Paola;
    • Roeckel-Trevisiol, Nathalie;
    • Jamali, Sarah;
    • Beclin, Christophe;
    • Seegmuller, Caroline;
    • Metz-Lutz, Marie-Noëlle;
    • Lemainque, Arnaud;
    • Delepine, Marc;
    • Caloustian, Christophe;
    • Martin, Anne de Saint;
    • Bruneau, Nadine;
    • Depétris, Danièle;
    • Mattéi, Marie-Geneviève;
    • Flori, Elisabeth
    Publication type:
    Article

  • Susceptibility genes for complex epilepsy.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. 2, p. r243, doi. 10.1093/hmg/ddi355
    By:
    • Mulley, John C.;
    • Scheffer, Ingrid E.;
    • Harkin, Louise A.;
    • Berkovic, Samuel F.;
    • Dibbens, Leanne M.
    Publication type:
    Article

  • Susceptibility genes for complex epilepsy.

    Published in:
    Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R243, doi. 10.1093/hmg/ddi355
    By:
    • Mulley, John C.;
    • Scheffer, Ingrid E.;
    • Harkin, Louise A.;
    • Berkovic, Samuel F.;
    • Dibbens, Leanne M.
    Publication type:
    Article

  • GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

    Published in:
    Human Molecular Genetics, 2004, v. 13, n. 13, p. 1315, doi. 10.1093/hmg/ddh146
    By:
    • Dibbens, Leanne M.;
    • Feng, Hua-Jun;
    • Richards, Michaella C.;
    • Harkin, Louise A.;
    • Hodgson, Bree L.;
    • Scott, Darren;
    • Jenkins, Misty;
    • Petrou, Steven;
    • Sutherland, Grant R.;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Macdonald, Robert L.;
    • Mulley, John C.
    Publication type:
    Article

  • Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype.

    Published in:
    Journal of Autism & Developmental Disorders, 2018, v. 48, n. 11, p. 3899, doi. 10.1007/s10803-018-3641-7
    By:
    • Yap, Valerie M. Z.;
    • McLachlan, Neil M.;
    • Scheffer, Ingrid E.;
    • Wilson, Sarah J.
    Publication type:
    Article

  • Cognitive processes predicting advanced theory of mind in the broader autism phenotype.

    Published in:
    Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 6, p. 921, doi. 10.1002/aur.2209
    By:
    • Green, Cherie C.;
    • Brown, Natasha J.;
    • Yap, Valerie M.Z.;
    • Scheffer, Ingrid E.;
    • Wilson, Sarah J.
    Publication type:
    Article

  • Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
    By:
    • Custodio, Helena Martins;
    • Clayton, Lisa M;
    • Bellampalli, Ravishankara;
    • Pagni, Susanna;
    • Silvennoinen, Katri;
    • Caswell, Richard;
    • Consortium, Genomics England Research;
    • Brunklaus, Andreas;
    • Guerrini, Renzo;
    • Koeleman, Bobby P C;
    • Lemke, Johannes R;
    • Møller, Rikke S;
    • Scheffer, Ingrid E;
    • Weckhuysen, Sarah;
    • Zara, Federico;
    • Zuberi, Sameer;
    • Kuchenbaecker, Karoline;
    • Balestrini, Simona;
    • Mills, James D;
    • Sisodiya, Sanjay M
    Publication type:
    Article

  • UNC13B and focal epilepsy.

    Published in:
    2022
    By:
    • Green, Timothy E.;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.
    Publication type:
    editorial

  • Atypical development of Broca's area in a large family with inherited stuttering.

    Published in:
    2022
    By:
    • Thompson-Lake, Daisy G Y;
    • Scerri, Thomas S;
    • Block, Susan;
    • Turner, Samantha J;
    • Reilly, Sheena;
    • Kefalianos, Elaina;
    • Bonthrone, Alexandra F;
    • Helbig, Ingo;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E;
    • Hildebrand, Michael S;
    • Liégeois, Frédérique J;
    • Morgan, Angela T
    Publication type:
    journal article

  • Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.

    Published in:
    2022
    By:
    • Skotte, Line;
    • Fadista, João;
    • Bybjerg-Grauholm, Jonas;
    • Appadurai, Vivek;
    • Hildebrand, Michael S;
    • Hansen, Thomas F;
    • Banasik, Karina;
    • Grove, Jakob;
    • Albiñana, Clara;
    • Geller, Frank;
    • Bjurström, Carmen F;
    • Vilhjálmsson, Bjarni J;
    • Coleman, Matthew;
    • Damiano, John A;
    • Burgess, Rosemary;
    • Scheffer, Ingrid E;
    • Pedersen, Ole Birger Vesterager;
    • Erikstrup, Christian;
    • Westergaard, David;
    • Nielsen, Kaspar René
    Publication type:
    journal article

  • Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.

    Published in:
    2021
    By:
    • Bleakley, Lauren E;
    • McKenzie, Chaseley E;
    • Soh, Ming S;
    • Forster, Ian C;
    • Pinares-Garcia, Paulo;
    • Sedo, Alicia;
    • Kathirvel, Anirudh;
    • Churilov, Leonid;
    • Jancovski, Nikola;
    • Maljevic, Snezana;
    • Berkovic, Samuel F;
    • Scheffer, Ingrid E;
    • Petrou, Steven;
    • Santoro, Bina;
    • Reid, Christopher A
    Publication type:
    journal article

  • Molecular epidemiology of monogenic epilepsies answers key clinical questions.

    Published in:
    2019
    By:
    • Scheffer, Ingrid E
    Publication type:
    journal article

  • Dorsal language stream anomalies in an inherited speech disorder.

    Published in:
    2019
    By:
    • Liégeois, Frédérique J;
    • Turner, Samantha J;
    • Mayes, Angela;
    • Bonthrone, Alexandra F;
    • Boys, Amber;
    • Smith, Libby;
    • Parry-Fielder, Bronwyn;
    • Mandelstam, Simone;
    • Spencer-Smith, Megan;
    • Bahlo, Melanie;
    • Scerri, Tom S;
    • Hildebrand, Michael S;
    • Scheffer, Ingrid E;
    • Connelly, Alan;
    • Morgan, Angela T
    Publication type:
    journal article

  • The ventrolateral medulla and medullary raphe in sudden unexpected death in epilepsy.

    Published in:
    2018
    By:
    • Patodia, Smriti;
    • Somani, Alyma;
    • O'Hare, Megan;
    • Venkateswaran, Ranjana;
    • Liu, Joan;
    • Michalak, Zuzanna;
    • Ellis, Matthew;
    • Scheffer, Ingrid E.;
    • Diehl, Beate;
    • Sisodiya, Sanjay M.;
    • Thom, Maria
    Publication type:
    journal article

  • Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.

    Published in:
    Annals of Neurology, 2023, v. 94, n. 5, p. 825, doi. 10.1002/ana.26765
    By:
    • 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
    Publication type:
    Article

  • ANA Podcasts & Webinars: Genetics of Epilepsy.

    Published in:
    Annals of Neurology, 2023, v. 93, n. 1, p. 15, doi. 10.1002/ana.26546
    By:
    • Das, Rohit R.;
    • Goss, Adeline L.;
    • Scheffer, Ingrid E.
    Publication type:
    Article

  • Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing.

    Published in:
    Annals of Neurology, 2021, v. 90, n. 4, p. 693, doi. 10.1002/ana.26191
    By:
    • Ye, Zimeng;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Hildebrand, Michael S.
    Publication type:
    Article

  • Postictal Psychosis in Epilepsy: A Clinicogenetic Study.

    Published in:
    Annals of Neurology, 2021, v. 90, n. 3, p. 464, doi. 10.1002/ana.26174
    By:
    • Braatz, Vera;
    • Martins Custodio, Helena;
    • Leu, Costin;
    • Agrò, Luigi;
    • Wang, Baihan;
    • Calafato, Stella;
    • Rayner, Genevieve;
    • Doyle, Michael G.;
    • Hengsbach, Christian;
    • Bisulli, Francesca;
    • Weber, Yvonne G.;
    • Gambardella, Antonio;
    • Delanty, Norman;
    • Cavalleri, Gianpiero;
    • Foong, Jacqueline;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Bramon, Elvira;
    • Balestrini, Simona;
    • Sisodiya, Sanjay M.
    Publication type:
    Article

  • Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.

    Published in:
    2020
    By:
    • Perucca, Piero;
    • Anderson, Alison;
    • Jazayeri, Dana;
    • Hitchcock, Alison;
    • Graham, Janet;
    • Todaro, Marian;
    • Tomson, Torbjörn;
    • Battino, Dina;
    • Perucca, Emilio;
    • Ferri, Meritxell Martinez;
    • Rochtus, Anne;
    • Lagae, Lieven;
    • Canevini, Maria Paola;
    • Zambrelli, Elena;
    • Campbell, Ellen;
    • Koeleman, Bobby P. C.;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Kwan, Patrick;
    • Sisodiya, Sanjay M.
    Publication type:
    journal article

  • SCN1A Variants in vaccine-related febrile seizures: A prospective study.

    Published in:
    2020
    By:
    • Damiano, John A.;
    • Deng, Lucy;
    • Li, Wenhui;
    • Burgess, Rosemary;
    • Schneider, Amy L.;
    • Crawford, Nigel W.;
    • Buttery, Jim;
    • Gold, Michael;
    • Richmond, Peter;
    • Macartney, Kristine K.;
    • Hildebrand, Michael S.;
    • Scheffer, Ingrid E.;
    • Wood, Nicholas;
    • Berkovic, Samuel F.
    Publication type:
    journal article

  • The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

    Published in:
    2019
    By:
    • Burgess, Rosemary;
    • Wang, Shuyu;
    • McTague, Amy;
    • Boysen, Katja E.;
    • Yang, Xiaoling;
    • Zeng, Qi;
    • Myers, Kenneth A.;
    • Rochtus, Anne;
    • Trivisano, Marina;
    • Gill, Deepak;
    • Sadleir, Lynette G.;
    • Specchio, Nicola;
    • Guerrini, Renzo;
    • Marini, Carla;
    • Zhang, Yue‐Hua;
    • Mefford, Heather C.;
    • Kurian, Manju A.;
    • Poduri, Annapurna H.;
    • Scheffer, Ingrid E.;
    • Zhang, Yue-Hua
    Publication type:
    journal article

  • Autism and developmental disability caused by KCNQ3 gain-of-function variants.

    Published in:
    2019
    By:
    • Sands, Tristan T.;
    • Miceli, Francesco;
    • Lesca, Gaetan;
    • Beck, Anita E.;
    • Sadleir, Lynette G.;
    • Arrington, Daniel K.;
    • Schönewolf‐Greulich, Bitten;
    • Moutton, Sébastien;
    • Lauritano, Anna;
    • Nappi, Piera;
    • Soldovieri, Maria Virginia;
    • Scheffer, Ingrid E.;
    • Mefford, Heather C.;
    • Stong, Nicholas;
    • Heinzen, Erin L.;
    • Goldstein, David B.;
    • Perez, Ana Grijalvo;
    • Kossoff, Eric H.;
    • Stocco, Amber;
    • Sullivan, Jennifer A.
    Publication type:
    journal article

  • Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

    Published in:
    2017
    By:
    • Perucca, Piero;
    • Crompton, Douglas E.;
    • Bellows, Susannah T.;
    • McIntosh, Anne M.;
    • Kalincik, Tomas;
    • Newton, Mark R.;
    • Vajda, Frank J. E.;
    • Scheffer, Ingrid E.;
    • Kwan, Patrick;
    • O'Brien, Terence J.;
    • Tan, K. Meng;
    • Berkovic, Samuel F.
    Publication type:
    journal article

  • Reply.

    Published in:
    2017
    By:
    • Helbig, Katherine L.;
    • Hedrich, Ulrike B. S.;
    • Scheffer, Ingrid E.;
    • Helbig, Ingo;
    • Lerche, Holger;
    • Lemke, Johannes R.
    Publication type:
    letter

  • Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.

    Published in:
    2016
    By:
    • Bagnall, Richard D.;
    • Crompton, Douglas E.;
    • Petrovski, Slavé;
    • Lam, Lien;
    • Cutmore, Carina;
    • Garry, Sarah I.;
    • Sadleir, Lynette G.;
    • Dibbens, Leanne M.;
    • Cairns, Anita;
    • Kivity, Sara;
    • Afawi, Zaid;
    • Regan, Brigid M.;
    • Duflou, Johan;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Semsarian, Christopher
    Publication type:
    journal article

  • Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

    Published in:
    2016
    By:
    • Ricos, Michael G.;
    • Hodgson, Bree L.;
    • Pippucci, Tommaso;
    • Saidin, Akzam;
    • Ong, Yeh Sze;
    • Heron, Sarah E.;
    • Licchetta, Laura;
    • Bisulli, Francesca;
    • Bayly, Marta A.;
    • Hughes, James;
    • Baldassari, Sara;
    • Palombo, Flavia;
    • Santucci, Margherita;
    • Meletti, Stefano;
    • Berkovic, Samuel F.;
    • Rubboli, Guido;
    • Thomas, Paul Q.;
    • Scheffer, Ingrid E.;
    • Tinuper, Paolo;
    • Geoghegan, Joel
    Publication type:
    journal article

  • Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
    By:
    • Scheffer, Ingrid E.;
    • Heron, Sarah E.;
    • Regan, Brigid M.;
    • Mandelstam, Simone;
    • Crompton, Douglas E.;
    • Hodgson, Bree L.;
    • Licchetta, Laura;
    • Provini, Federica;
    • Bisulli, Francesca;
    • Vadlamudi, Lata;
    • Gecz, Jozef;
    • Connelly, Alan;
    • Tinuper, Paolo;
    • Ricos, Michael G.;
    • Berkovic, Samuel F.;
    • Dibbens, Leanne M.
    Publication type:
    Article

  • KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 4, p. 581, doi. 10.1002/ana.24128
    By:
    • Milligan, Carol J.;
    • Li, Melody;
    • Gazina, Elena V.;
    • Heron, Sarah E.;
    • Nair, Umesh;
    • Trager, Chantel;
    • Reid, Christopher A.;
    • Venkat, Anu;
    • Younkin, Donald P.;
    • Dlugos, Dennis J.;
    • Petrovski, Slavé;
    • Goldstein, David B.;
    • Dibbens, Leanne M.;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven
    Publication type:
    Article

  • Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

    Published in:
    Annals of Neurology, 2014, v. 75, n. 3, p. 382, doi. 10.1002/ana.24080
    By:
    • Orhan, Gökce;
    • Bock, Merle;
    • Schepers, Dorien;
    • Ilina, Elena I.;
    • Reichel, Stephanie Nadine;
    • Löffler, Heidi;
    • Jezutkovic, Nicole;
    • Weckhuysen, Sarah;
    • Mandelstam, Simone;
    • Suls, Arvid;
    • Danker, Timm;
    • Guenther, Elke;
    • Scheffer, Ingrid E.;
    • Jonghe, Peter;
    • Lerche, Holger;
    • Maljevic, Snezana
    Publication type:
    Article

  • Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.

    Published in:
    Annals of Neurology, 2013, v. 74, n. 3, p. 496, doi. 10.1002/ana.23934
    By:
    • Hitomi, Yuki;
    • Heinzen, Erin L.;
    • Donatello, Simona;
    • Dahl, Hans‐Henrik;
    • Damiano, John A.;
    • McMahon, Jacinta M.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Legros, Benjamin;
    • Rai, Myriam;
    • Weckhuysen, Sarah;
    • Suls, Arvid;
    • Jonghe, Peter;
    • Pandolfo, Massimo;
    • Goldstein, David B.;
    • Bogaert, Patrick;
    • Depondt, Chantal
    Publication type:
    Article

  • Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7965, doi. 10.3390/ijms21217965
    By:
    • Trevis, Krysta J.;
    • Brown, Natasha J.;
    • Green, Cherie C.;
    • Lockhart, Paul J.;
    • Desai, Tarishi;
    • Vick, Tanya;
    • Anderson, Vicki;
    • Pua, Emmanuel P. K.;
    • Bahlo, Melanie;
    • Delatycki, Martin B.;
    • Scheffer, Ingrid E.;
    • Wilson, Sarah J.
    Publication type:
    Article

  • 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

  • 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

  • Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

    Published in:
    Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 276, doi. 10.1002/acn3.401
    By:
    • McGlade, Amelia;
    • Myers, Kenneth A.;
    • Berkovic, Samuel F.;
    • Scheffer, Ingrid E.;
    • Petrovski, Slavé;
    • Hildebrand, Michael S.
    Publication type:
    Article

  • PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.

    Published in:
    Annals of Clinical & Translational Neurology, 2015, v. 2, n. 8, p. 821, doi. 10.1002/acn3.224
    By:
    • Hildebrand, Michael S.;
    • Tankard, Rick;
    • Gazina, Elena V.;
    • Damiano, John A.;
    • Lawrence, Kate M.;
    • Dahl, Hans‐Henrik M.;
    • Regan, Brigid M.;
    • Shearer, Aiden Eliot;
    • Smith, Richard J. H.;
    • Marini, Carla;
    • Guerrini, Renzo;
    • Labate, Angelo;
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  • Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

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  • Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

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    Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.00925
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  • Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

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  • Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.

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  • A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

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    Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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  • Refining analyses of copy number variation identifies specific genes associated with developmental delay.

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    Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
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  • Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

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    Nature Genetics, 2012, v. 44, n. 11, p. 1188, doi. 10.1038/ng.2440
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  • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

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    Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149
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  • Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.

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  • Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

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    • Berkovic, Samuel F.;
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    • Petrou, Steven
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