Works by Scheffer, Ingrid E

Results: 274
    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
    2

    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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    Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report.

    Published in:
    Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.834252
    By:
    • Mckenzie, Chaseley E.;
    • Ho, Chen-Jui;
    • Forster, Ian C.;
    • Soh, Ming S.;
    • Phillips, A. Marie;
    • Chang, Ying-Chao;
    • Scheffer, Ingrid E.;
    • Reid, Christopher A.;
    • Tsai, Meng-Han
    Publication type:
    Article
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    Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

    Published in:
    Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056
    By:
    • Kooshavar, Daniz;
    • Amor, David J;
    • Boggs, Kirsten;
    • Baker, Naomi;
    • Barnett, Christopher;
    • Silva, Michelle G de;
    • Edwards, Samantha;
    • Fahey, Michael C;
    • Marum, Justine E;
    • Snell, Penny;
    • Bozaoglu, Kiymet;
    • Pope, Kate;
    • Mohammad, Shekeeb S;
    • Riney, Kate;
    • Sachdev, Rani;
    • Scheffer, Ingrid E;
    • Schenscher, Sarah;
    • Silberstein, John;
    • Smith, Nicholas;
    • Tom, Melanie
    Publication type:
    Article
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    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
    14

    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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    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;
    • Gambardella, Antonio;
    • Tinuper, Paolo;
    • Lichetta, Laura;
    • Baldassari, Sara;
    • Bisulli, Francesca;
    • Pippucci, Tommaso;
    • Scheffer, Ingrid E.;
    • Reid, Christopher A.
    Publication type:
    Article
    17

    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
    18

    Early neuroimaging markers of FOXP2 intragenic deletion.

    Published in:
    Scientific Reports, 2016, p. 35192, doi. 10.1038/srep35192
    By:
    • Liégeois, Frédérique J.;
    • Hildebrand, Michael S.;
    • Bonthrone, Alexandra;
    • Turner, Samantha J.;
    • Scheffer, Ingrid E.;
    • Bahlo, Melanie;
    • Connelly, Alan;
    • Morgan, Angela T.
    Publication type:
    Article
    19

    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
    20

    Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 14, p. 2307, doi. 10.1093/hmg/ddab366
    By:
    • Green, Timothy E;
    • Motelow, Joshua E;
    • Bennett, Mark F;
    • Ye, Zimeng;
    • Bennett, Caitlin A;
    • Griffin, Nicole G;
    • Damiano, John A;
    • Leventer, Richard J;
    • Freeman, Jeremy L;
    • Harvey, A Simon;
    • Lockhart, Paul J;
    • Sadleir, Lynette G;
    • Boys, Amber;
    • Scheffer, Ingrid E;
    • Major, Heather;
    • Darbro, Benjamin W;
    • Bahlo, Melanie;
    • Goldstein, David B;
    • Kerrigan, John F;
    • Heinzen, Erin L
    Publication type:
    Article
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    International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

    Published in:
    NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00474-8
    By:
    • Howell, Katherine B.;
    • White, Susan M.;
    • McTague, Amy;
    • D'Gama, Alissa M.;
    • Costain, Gregory;
    • Poduri, Annapurna;
    • Scheffer, Ingrid E.;
    • Chau, Vann;
    • Smith, Lindsay D.;
    • Stephenson, Sarah E. M.;
    • Wojcik, Monica;
    • Davidson, Andrew;
    • Sebire, Neil;
    • Sliz, Piotr;
    • Beggs, Alan H.;
    • Chitty, Lyn S.;
    • Cohn, Ronald D.;
    • Marshall, Christian R.;
    • Andrews, Nancy C.;
    • North, Kathryn N.
    Publication type:
    Article
    25
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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
    27

    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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    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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    Head stereotypies in STXBP1 encephalopathy.

    Published in:
    Developmental Medicine & Child Neurology, 2013, v. 55, n. 8, p. 769, doi. 10.1111/dmcn.12197
    By:
    • Kim, Young Ok;
    • Korff, Christian M;
    • Villaluz, Mel Michel G;
    • Suls, Arvid;
    • Weckhuysen, Sarah;
    • Jonghe, Peter;
    • Scheffer, Ingrid E
    Publication type:
    Article
    35

    The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

    Published in:
    Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 154, doi. 10.1111/dmcn.12030
    By:
    • BRUNKLAUS, ANDREAS;
    • DORRIS, LIAM;
    • ELLIS, RACHAEL;
    • REAVEY, ELEANOR;
    • LEE, ELIZABETH;
    • FORBES, GORDON;
    • APPLETON, RICHARD;
    • CROSS, J HELEN;
    • FERRIE, COLIN;
    • HUGHES, IMELDA;
    • JOLLANDS, ALICE;
    • KING, MARY D;
    • LIVINGSTON, JOHN;
    • LYNCH, BRYAN;
    • PHILIP, SUNNY;
    • SCHEFFER, INGRID E;
    • WILLIAMS, RUTH;
    • ZUBERI, SAMEER M
    Publication type:
    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
    38

    Refining analyses of copy number variation identifies specific genes associated with developmental delay.

    Published in:
    Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
    By:
    • Coe, Bradley P;
    • Witherspoon, Kali;
    • Baker, Carl;
    • Krumm, Nik;
    • Shendure, Jay;
    • Lockhart, Paul J;
    • Scheffer, Ingrid E;
    • Tervo, Raymond;
    • Peeters, Hilde;
    • Thompson, Elizabeth;
    • Haan, Eric;
    • O'Roak, Brian J;
    • Fichera, Marco;
    • Gécz, Jozef;
    • Eichler, Evan E;
    • Rosenfeld, Jill A;
    • Torchia, Beth S;
    • van Bon, Bregje W M;
    • Vulto-van Silfhout, Anneke T;
    • Vissers, Lisenka E L M
    Publication type:
    Article
    39
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    X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

    Published in:
    Nature Genetics, 2008, v. 40, n. 6, p. 776, doi. 10.1038/ng.149
    By:
    • Dibbens, Leanne M.;
    • Tarpey, Patrick S.;
    • Hynes, Kim;
    • Bayly, Marta A.;
    • Scheffer, Ingrid E.;
    • Smith, Raffaella;
    • Bomar, Jamee;
    • Sutton, Edwina;
    • Vandeleur, Lucianne;
    • Shoubridge, Cheryl;
    • Edkins, Sarah;
    • Turner, Samantha J.;
    • Stevens, Claire;
    • O'Meara, Sarah;
    • Tofts, Calli;
    • Barthorpe, Syd;
    • Buck, Gemma;
    • Cole, Jennifer;
    • Halliday, Kelly;
    • Jones, David
    Publication type:
    Article
    41

    Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

    Published in:
    Nature Genetics, 2002, v. 30, n. 4, p. 441
    By:
    • Strømme, Petter;
    • Mangelsdorf, Marie E.;
    • Shaw, Marie A.;
    • Lower, Karen M.;
    • Lewis, Suzanne M.E.;
    • Bruyere, Helene;
    • Lütcherath, Viggo;
    • Gedeon, Ági K.;
    • Wallace, Robyn H.;
    • Scheffer, Ingrid E.;
    • Turner, Gillian;
    • Partington, Michael;
    • Frints, Suzanna G.M.;
    • Fryns, Jean-Pierre;
    • Sutherland, Grant R.;
    • Mulley, John C.;
    • Gécz, Jozef
    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
    47

    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
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    Gain‐of‐function <italic>HCN2</italic> variants in genetic epilepsy.

    Published in:
    Human Mutation, 2018, v. 39, n. 2, p. 202, doi. 10.1002/humu.23357
    By:
    • Li, Melody;
    • Maljevic, Snezana;
    • Phillips, A. Marie;
    • Petrovski, Slave;
    • Hildebrand, Michael S.;
    • Burgess, Rosemary;
    • Mount, Therese;
    • Zara, Federico;
    • Striano, Pasquale;
    • Schubert, Julian;
    • Thiele, Holger;
    • Nürnberg, Peter;
    • Wong, Michael;
    • Weisenberg, Judith L.;
    • Thio, Liu Lin;
    • Lerche, Holger;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Petrou, Steven;
    • Reid, Christopher A.
    Publication type:
    Article
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