Works matching AU Scheffer, Ingrid E.

Results: 272
    1
    2
    3
    4
    5

    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
    6
    7
    8
    9

    Protocol for a single patient therapy plan: A randomised, double‐blind, placebo‐controlled N‐of‐1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy.

    Published in:
    Journal of Paediatrics & Child Health, 2020, v. 56, n. 12, p. 1918, doi. 10.1111/jpc.15078
    By:
    • Ong, Katherine S;
    • Carlin, John B;
    • Fahey, Michael;
    • Freeman, Jeremy L;
    • Scheffer, Ingrid E;
    • Gillam, Lynn;
    • Anderson, Monique;
    • Huque, Md Hamidul;
    • Legge, Donna;
    • Dirnbauer, Nicole;
    • Lilley, Brian;
    • Slota‐Kan, Simon;
    • Cranswick, Noel
    Publication type:
    Article
    10

    Neuronal ceroid lipofuscinosis type 2: an Australian case series.

    Published in:
    2020
    By:
    • Johnson, Alexandra M;
    • Mandelstam, Simone;
    • Andrews, Ian;
    • Boysen, Katja;
    • Yaplito‐Lee, Joy;
    • Fietz, Michael;
    • Nagarajan, Lakshmi;
    • Rodriguez‐Casero, Victoria;
    • Ryan, Monique M;
    • Smith, Nicholas;
    • Scheffer, Ingrid E;
    • Ellaway, Carolyn;
    • Yaplito-Lee, Joy;
    • Rodriguez-Casero, Victoria
    Publication type:
    journal article
    11
    12

    Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

    Published in:
    Developmental Medicine & Child Neurology, 2023, v. 65, n. 1, p. 50, doi. 10.1111/dmcn.15308
    By:
    • Scheffer, Ingrid E.;
    • Bennett, Caitlin A.;
    • Gill, Deepak;
    • de Silva, Michelle G.;
    • Boggs, Kirsten;
    • Marum, Justine;
    • Baker, Naomi;
    • Palmer, Elizabeth E.;
    • Howell, Katherine B.;
    • Andrews, Ian;
    • Antony, Jayne;
    • Ardern‐Holmes, Simone;
    • Bye, Ann M;
    • Cardamone, Michael;
    • Chelakkadan, Shabeed;
    • Clark, Damian;
    • Curnow, Sarah R;
    • Dabscheck, Gabriel;
    • Fahey, Michael C;
    • Freeman, Jeremy L
    Publication type:
    Article
    13

    Self‐reported impact of developmental stuttering across the lifespan.

    Published in:
    Developmental Medicine & Child Neurology, 2022, v. 64, n. 10, p. 1297, doi. 10.1111/dmcn.15211
    By:
    • Boyce, Jessica O.;
    • Jackson, Victoria E.;
    • van Reyk, Olivia;
    • Parker, Richard;
    • Vogel, Adam P.;
    • Eising, Else;
    • Horton, Sarah E.;
    • Gillespie, Nathan A.;
    • Scheffer, Ingrid E.;
    • Amor, David J.;
    • Hildebrand, Michael S.;
    • Fisher, Simon E.;
    • Martin, Nicholas G.;
    • Reilly, Sheena;
    • Bahlo, Melanie;
    • Morgan, Angela T.
    Publication type:
    Article
    14
    15

    Severe speech impairment is a distinguishing feature of FOXP1‐related disorder.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 12, p. 1417, doi. 10.1111/dmcn.14955
    By:
    • Braden, Ruth O;
    • Amor, David J;
    • Fisher, Simon E;
    • Mei, Cristina;
    • Myers, Candace T;
    • Mefford, Heather;
    • Gill, Deepak;
    • Srivastava, Siddharth;
    • Swanson, Lindsay C;
    • Goel, Himanshu;
    • Scheffer, Ingrid E;
    • Morgan, Angela T
    Publication type:
    Article
    16
    17
    18
    19
    20
    21
    22

    Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 6, p. 2046, doi. 10.1111/epi.18346
    By:
    • Rong, Marlene;
    • Marques, Paula T.;
    • Ali, Quratulain Zulfiqar;
    • Morcos, Ricardo;
    • Chandran, Ilakkiah;
    • Qaiser, Farah;
    • Møller, Rikke S.;
    • Bayat, Allan;
    • Rubboli, Guido;
    • Gardella, Elena;
    • Reuter, Miriam S.;
    • Sands, Tristan T.;
    • Scheffer, Ingrid E.;
    • Schneider, Amy;
    • Poduri, Annapurna;
    • Wirrell, Elaine;
    • Nabbout, Rima;
    • Sullivan, Joseph;
    • Valente, Kette;
    • Auvin, Stéphane
    Publication type:
    Article
    23

    SCN1A pathogenic variants do not have a distinctive blood‐derived DNA methylation signature.

    Published in:
    Epilepsia (Series 4), 2025, v. 66, n. 4, p. e66, doi. 10.1111/epi.18315
    By:
    • LaFlamme, Christy W.;
    • Karimi, Karim;
    • Rastin, Cassandra;
    • Almanza Fuerte, Edith P.;
    • Allan, Talia;
    • Russ‐Hall, Sophie J.;
    • Schneider, Amy L.;
    • Stobo, Daniel;
    • Lesca, Gaetan;
    • Symonds, Joseph D.;
    • Brunklaus, Andreas;
    • Sadleir, Lynette G.;
    • Scheffer, Ingrid E.;
    • Sadikovic, Bekim;
    • Mefford, Heather C.
    Publication type:
    Article
    24
    25
    26

    SCN8A self‐limited infantile epilepsy: Does epilepsy resolve?

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 8, p. e156, doi. 10.1111/epi.18016
    By:
    • Young, Emma;
    • Harris, Rebekah;
    • Lieffering, Nico;
    • de Valles‐Ibáñez, Guillem;
    • Nyaga, Denis;
    • Bennett, Mark F.;
    • Hildebrand, Michael S.;
    • Scheffer, Ingrid E.;
    • Sadleir, Lynette G.
    Publication type:
    Article
    27

    Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 4, p. 1046, doi. 10.1111/epi.17882
    By:
    • Gallagher, Declan;
    • Pérez‐Palma, Eduardo;
    • Bruenger, Tobias;
    • Ghanty, Ismael;
    • Brilstra, Eva;
    • Ceulemans, Berten;
    • Chemaly, Nicole;
    • de Lange, Iris;
    • Depienne, Christel;
    • Guerrini, Renzo;
    • Mei, Davide;
    • Møller, Rikke S.;
    • Nabbout, Rima;
    • Regan, Brigid M.;
    • Schneider, Amy L.;
    • Scheffer, Ingrid E.;
    • Schoonjans, An‐Sofie;
    • Symonds, Joseph D.;
    • Weckhuysen, Sarah;
    • Zuberi, Sameer M.
    Publication type:
    Article
    28

    Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.

    Published in:
    Epilepsia (Series 4), 2024, v. 65, n. 2, p. 322, doi. 10.1111/epi.17850
    By:
    • Perry, M. Scott;
    • Scheffer, Ingrid E.;
    • Sullivan, Joseph;
    • Brunklaus, Andreas;
    • Boronat, Susana;
    • Wheless, James W.;
    • Laux, Linda;
    • Patel, Anup D.;
    • Roberts, Colin M.;
    • Dlugos, Dennis;
    • Holder, Deborah;
    • Knupp, Kelly G.;
    • Lallas, Matt;
    • Phillips, Steven;
    • Segal, Eric;
    • Smeyers, Patricia;
    • Lal, Dennis;
    • Wirrell, Elaine;
    • Zuberi, Sameer;
    • Brünger, Tobias
    Publication type:
    Article
    29

    Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo‐controlled clinical trial.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 10, p. 2653, doi. 10.1111/epi.17737
    By:
    • Sullivan, Joseph;
    • Lagae, Lieven;
    • Cross, J. Helen;
    • Devinsky, Orrin;
    • Guerrini, Renzo;
    • Knupp, Kelly G.;
    • Laux, Linda;
    • Nikanorova, Marina;
    • Polster, Tilman;
    • Talwar, Dinesh;
    • Ceulemans, Berten;
    • Nabbout, Rima;
    • Farfel, Gail M.;
    • Galer, Bradley S.;
    • Gammaitoni, Arnold R.;
    • Lock, Michael;
    • Agarwal, Anupam;
    • Scheffer, Ingrid E.;
    • Gill, Deepak;
    • Riney, Kate
    Publication type:
    Article
    30

    Recognition and epileptology of protracted CLN3 disease.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 7, p. 1833, doi. 10.1111/epi.17616
    By:
    • 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.
    Publication type:
    Article
    31
    32
    33

    Genes4Epilepsy: An epilepsy gene resource.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1368, doi. 10.1111/epi.17547
    By:
    • Oliver, Karen L.;
    • Scheffer, Ingrid E.;
    • Bennett, Mark F.;
    • Grinton, Bronwyn E.;
    • Bahlo, Melanie;
    • Berkovic, Samuel F.
    Publication type:
    Article
    34

    Fenfluramine provides clinically meaningful reduction in frequency of drop seizures in patients with Lennox–Gastaut syndrome: Interim analysis of an open‐label extension study.

    Published in:
    Epilepsia (Series 4), 2023, v. 64, n. 1, p. 139, doi. 10.1111/epi.17431
    By:
    • Knupp, Kelly G.;
    • Scheffer, Ingrid E.;
    • Ceulemans, Berten;
    • Sullivan, Joseph;
    • Nickels, Katherine C.;
    • Lagae, Lieven;
    • Guerrini, Renzo;
    • Zuberi, Sameer M.;
    • Nabbout, Rima;
    • Riney, Kate;
    • Agarwal, Anupam;
    • Lock, Michael;
    • Dai, David;
    • Farfel, Gail M.;
    • Galer, Bradley S.;
    • Gammaitoni, Arnold R.;
    • Polega, Shikha;
    • Davis, Ronald;
    • Gil‐Nagel, Antonio
    Publication type:
    Article
    35
    36

    A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 7, p. 1748, doi. 10.1111/epi.17263
    By:
    • Striano, Pasquale;
    • Auvin, Stéphane;
    • Collins, Abigail;
    • Horvath, Rita;
    • Scheffer, Ingrid E.;
    • Tzadok, Michal;
    • Miller, Ian;
    • Kay Koenig, Mary;
    • Lacy, Adrian;
    • Davis, Ronald;
    • Garcia‐Cazorla, Angela;
    • Saneto, Russell P.;
    • Brandabur, Melanie;
    • Blair, Susan;
    • Koutsoukos, Tony;
    • De Vivo, Darryl
    Publication type:
    Article
    37
    38
    39

    International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1398, doi. 10.1111/epi.17241
    By:
    • Specchio, Nicola;
    • Wirrell, Elaine C.;
    • Scheffer, Ingrid E.;
    • Nabbout, Rima;
    • Riney, Kate;
    • Samia, Pauline;
    • Guerreiro, Marilisa;
    • Gwer, Sam;
    • Zuberi, Sameer M.;
    • Wilmshurst, Jo M.;
    • Yozawitz, Elissa;
    • Pressler, Ronit;
    • Hirsch, Edouard;
    • Wiebe, Sam;
    • Cross, Helen J.;
    • Perucca, Emilio;
    • Moshé, Solomon L.;
    • Tinuper, Paolo;
    • Auvin, Stéphane
    Publication type:
    Article
    40

    International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1443, doi. 10.1111/epi.17240
    By:
    • Riney, Kate;
    • Bogacz, Alicia;
    • Somerville, Ernest;
    • Hirsch, Edouard;
    • Nabbout, Rima;
    • Scheffer, Ingrid E.;
    • Zuberi, Sameer M.;
    • Alsaadi, Taoufik;
    • Jain, Satish;
    • French, Jacqueline;
    • Specchio, Nicola;
    • Trinka, Eugen;
    • Wiebe, Samuel;
    • Auvin, Stéphane;
    • Cabral‐Lim, Leonor;
    • Naidoo, Ansuya;
    • Perucca, Emilio;
    • Moshé, Solomon L.;
    • Wirrell, Elaine C.;
    • Tinuper, Paolo
    Publication type:
    Article
    41

    ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1349, doi. 10.1111/epi.17239
    By:
    • Zuberi, Sameer M.;
    • Wirrell, Elaine;
    • Yozawitz, Elissa;
    • Wilmshurst, Jo M.;
    • Specchio, Nicola;
    • Riney, Kate;
    • Pressler, Ronit;
    • Auvin, Stephane;
    • Samia, Pauline;
    • Hirsch, Edouard;
    • Galicchio, Santiago;
    • Triki, Chahnez;
    • Snead, O. Carter;
    • Wiebe, Samuel;
    • Cross, J. Helen;
    • Tinuper, Paolo;
    • Scheffer, Ingrid E.;
    • Perucca, Emilio;
    • Moshé, Solomon L.;
    • Nabbout, Rima
    Publication type:
    Article
    42

    Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1333, doi. 10.1111/epi.17237
    By:
    • Wirrell, Elaine C.;
    • Nabbout, Rima;
    • Scheffer, Ingrid E.;
    • Alsaadi, Taoufik;
    • Bogacz, Alicia;
    • French, Jacqueline A.;
    • Hirsch, Edouard;
    • Jain, Satish;
    • Kaneko, Sunao;
    • Riney, Kate;
    • Samia, Pauline;
    • Snead, O. Carter;
    • Somerville, Ernest;
    • Specchio, Nicola;
    • Trinka, Eugen;
    • Zuberi, Sameer M.;
    • Balestrini, Simona;
    • Wiebe, Samuel;
    • Cross, J. Helen;
    • Perucca, Emilio
    Publication type:
    Article
    43

    ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1475, doi. 10.1111/epi.17236
    By:
    • Hirsch, Edouard;
    • French, Jacqueline;
    • Scheffer, Ingrid E.;
    • Bogacz, Alicia;
    • Alsaadi, Taoufik;
    • Sperling, Michael R.;
    • Abdulla, Fatema;
    • Zuberi, Sameer M.;
    • Trinka, Eugen;
    • Specchio, Nicola;
    • Somerville, Ernest;
    • Samia, Pauline;
    • Riney, Kate;
    • Nabbout, Rima;
    • Jain, Satish;
    • Wilmshurst, Jo M.;
    • Auvin, Stephane;
    • Wiebe, Samuel;
    • Perucca, Emilio;
    • Moshé, Solomon L.
    Publication type:
    Article
    44

    A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

    Published in:
    Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1563, doi. 10.1111/epi.17228
    By:
    • Campbell, Ciarán;
    • McCormack, Mark;
    • Patel, Sonn;
    • Stapleton, Caragh;
    • Bobbili, Dheeraj;
    • Krause, Roland;
    • Depondt, Chantal;
    • Sills, Graeme J.;
    • Koeleman, Bobby P.;
    • Striano, Pasquale;
    • Zara, Federico;
    • Sander, Josemir W.;
    • Lerche, Holger;
    • Kunz, Wolfram S.;
    • Stefansson, Kari;
    • Stefansson, Hreinn;
    • Doherty, Colin P.;
    • Heinzen, Erin L.;
    • Scheffer, Ingrid E.;
    • Goldstein, David B.
    Publication type:
    Article
    45
    46
    47

    Transcriptome analysis of a ring chromosome 20 patient cohort.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 1, p. e22, doi. 10.1111/epi.16766
    By:
    • Myers, Kenneth A.;
    • Bennett, Mark F.;
    • Hildebrand, Michael S.;
    • Coleman, Matthew J.;
    • Zhou, Geyu;
    • Hollingsworth, Georgie;
    • Cairns, Anita;
    • Riney, Kate;
    • Berkovic, Samuel F.;
    • Bahlo, Melanie;
    • Scheffer, Ingrid E.
    Publication type:
    Article
    48
    49
    50