Found: 24

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  • Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 587, doi. 10.1093/brain/awac274
    By:
    • Cooper, Monica S;
    • Mackay, Mark T;
    • Dagia, Charuta;
    • Fahey, Michael C;
    • Howell, Katherine B;
    • Reddihough, Dinah;
    • Reid, Susan;
    • Harvey, A Simon
    Publication type:
    Article

  • Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

    Published in:
    2016
    By:
    • Jijun Wan;
    • Steffen, Janos;
    • Yourshaw, Michael;
    • Mamsa, Hafsa;
    • Andersen, Erik;
    • Rudnik-Schöneborn, Sabine;
    • Pope, Kate;
    • Howell, Katherine B.;
    • McLean, Catriona A.;
    • Kornberg, Andrew J.;
    • Joseph, Jörg;
    • Lockhart, Paul J.;
    • Zerres, Klaus;
    • Ryan, Monique M.;
    • Nelson, Stanley F.;
    • Koehler, Carla M.;
    • Jen, Joanna C.;
    • Wan, Jijun
    Publication type:
    journal article

  • "Don't Throw the Baby out with the Bathwater".

    Published in:
    Annals of Neurology, 2024, v. 95, n. 4, p. 823, doi. 10.1002/ana.26889
    By:
    • Howell, Katherine B.;
    • Harvey, A. Simon
    Publication type:
    Article

  • Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 1, p. 122, doi. 10.1002/ana.26366
    By:
    • Barbier, Mathieu;
    • Bahlo, Melanie;
    • Pennisi, Alessandra;
    • Jacoupy, Maxime;
    • Tankard, Rick M.;
    • Ewenczyk, Claire;
    • Davies, Kayli C.;
    • Lino‐Coulon, Patricia;
    • Colace, Claire;
    • Rafehi, Haloom;
    • Auger, Nicolas;
    • Ansell, Brendan R. E.;
    • van der Stelt, Ivo;
    • Howell, Katherine B.;
    • Coutelier, Marie;
    • Amor, David J.;
    • Mundwiller, Emeline;
    • Guillot‐Noël, Lena;
    • Storey, Elsdon;
    • Gardner, R. J. McKinlay
    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

  • Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

    Published in:
    Nature Genetics, 2013, v. 45, n. 7, p. 825, doi. 10.1038/ng.2646
    By:
    • Carvill, Gemma L;
    • Heavin, Sinéad B;
    • Yendle, Simone C;
    • McMahon, Jacinta M;
    • O'Roak, Brian J;
    • Cook, Joseph;
    • Khan, Adiba;
    • Dorschner, Michael O;
    • Weaver, Molly;
    • Calvert, Sophie;
    • Malone, Stephen;
    • Wallace, Geoffrey;
    • Stanley, Thorsten;
    • Bye, Ann M E;
    • Bleasel, Andrew;
    • Howell, Katherine B;
    • Kivity, Sara;
    • Mackay, Mark T;
    • Rodriguez-Casero, Victoria;
    • Webster, Richard
    Publication type:
    Article

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

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03454-1
    By:
    • Berecki, Géza;
    • Howell, Katherine B.;
    • Heighway, Jacqueline;
    • Olivier, Nelson;
    • Rodda, Jill;
    • Overmars, Isabella;
    • Vlaskamp, Danique R. M.;
    • Ware, Tyson L.;
    • Ardern-Holmes, Simone;
    • Lesca, Gaetan;
    • Alber, Michael;
    • Veggiotti, Pierangelo;
    • Scheffer, Ingrid E.;
    • Berkovic, Samuel F.;
    • Wolff, Markus;
    • Petrou, Steven
    Publication type:
    Article

  • Parental health spillover effects of paediatric rare genetic conditions.

    Published in:
    Quality of Life Research, 2020, v. 29, n. 9, p. 2445, doi. 10.1007/s11136-020-02497-3
    By:
    • Wu, You;
    • Al-Janabi, Hareth;
    • Mallett, Andrew;
    • Quinlan, Catherine;
    • Scheffer, Ingrid E.;
    • Howell, Katherine B.;
    • Christodoulou, John;
    • Leventer, Richard J.;
    • Lockhart, Paul J.;
    • Stark, Zornitza;
    • Boughtwood, Tiffany;
    • Goranitis, Ilias
    Publication type:
    Article

  • Anesthetic considerations in Dravet syndrome.

    Published in:
    Pediatric Anesthesia, 2022, v. 32, n. 10, p. 1166, doi. 10.1111/pan.14525
    By:
    • Macdonald‐Laurs, Emma;
    • Corlette, Sebastian;
    • Davidson, Andrew;
    • Howell, Katherine B.
    Publication type:
    Article

  • De novo mutations in epileptic encephalopathies.

    Published in:
    Nature, 2013, v. 501, n. 7466, p. 217, doi. 10.1038/nature12439
    By:
    • Allen, Andrew S.;
    • Berkovic, Samuel F.;
    • Cossette, Patrick;
    • Delanty, Norman;
    • Dlugos, Dennis;
    • Eichler, Evan E.;
    • Epstein, Michael P.;
    • Glauser, Tracy;
    • Goldstein, David B.;
    • Han, Yujun;
    • Heinzen, Erin L.;
    • Hitomi, Yuki;
    • Howell, Katherine B.;
    • Johnson, Michael R.;
    • Kuzniecky, Ruben;
    • Lowenstein, Daniel H.;
    • Lu, Yi-Fan;
    • Madou, Maura R. Z.;
    • Marson, Anthony G.;
    • Mefford, Heather C.
    Publication type:
    Article

  • Targets of antibodies against Plasmodium falciparum-infected erythrocytes in malaria immunity.

    Published in:
    Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3227, doi. 10.1172/JCI62182
    By:
    • Jo-Anne Chan;
    • Howell, Katherine B.;
    • Reiling, Linda;
    • Ataide, Ricardo;
    • Mackintosh, Claire L.;
    • Fowkes, Freya J. I.;
    • Petter, Michaela;
    • Chesson, Joanne M.;
    • Langer, Christine;
    • Warimwe, George M.;
    • Duffy, Michael F.;
    • Rogerson, Stephen J.;
    • Bull, Peter C.;
    • Cowman, Alan F.;
    • Marsh, Kevin;
    • Beeson, James G.
    Publication type:
    Article

  • Response to sequential treatment with prednisolone and vigabatrin in infantile spasms.

    Published in:
    Journal of Paediatrics & Child Health, 2022, v. 58, n. 12, p. 2197, doi. 10.1111/jpc.16181
    By:
    • Dzau, Winston;
    • Cheng, Sally;
    • Snell, Penny;
    • Fahey, Michael;
    • Scheffer, Ingrid E;
    • Harvey, A Simon;
    • Howell, Katherine B
    Publication type:
    Article

  • Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.

    Published in:
    2016
    By:
    • Leong, Omega;
    • Andersen, Erik;
    • Yiu, Eppie M;
    • Green, David;
    • Mackay, Mark T;
    • Elder, James E;
    • Howell, Katherine B
    Publication type:
    journal article

  • High resolution chromosomal microarray in undiagnosed neurological disorders.

    Published in:
    Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
    By:
    • Howell, Katherine B;
    • Kornberg, Andrew J;
    • Harvey, A Simon;
    • Ryan, Monique M;
    • Mackay, Mark T;
    • Freeman, Jeremy L;
    • Rodriguez Casero, M Victoria;
    • Collins, Kevin J;
    • Hayman, Michael;
    • Mohamed, Ahmad;
    • Ware, Tyson L;
    • Clark, Damian;
    • Bruno, Damien L;
    • Burgess, Trent;
    • Slater, Howard;
    • McGillivray, George;
    • Leventer, Richard J
    Publication type:
    Article

  • 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

  • Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.

    Published in:
    Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 498, doi. 10.1111/dmcn.12346
    By:
    • Ware, Tyson L;
    • Earl, John;
    • Salomons, Gajja S;
    • Struys, Eduard A;
    • Peters, Heidi L;
    • Howell, Katherine B;
    • Pitt, James J;
    • Freeman, Jeremy L
    Publication type:
    Article

  • Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

    Published in:
    Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
    By:
    • Ware, Tyson L.;
    • Huskins, Shannon R.;
    • Grinton, Bronwyn E.;
    • Liu, Yu‐Chi;
    • Bennett, Mark F.;
    • Harvey, Michael;
    • McMahon, Jacinta;
    • Andreopoulos‐Malikotsinas, Danae;
    • Bahlo, Melanie;
    • Howell, Katherine B.;
    • Hildebrand, Michael S.;
    • Damiano, John A.;
    • Rosenfeld, Alexander;
    • Mackay, Mark T.;
    • Mandelstam, Simone;
    • Leventer, Richard J.;
    • Harvey, A. Simon;
    • Freeman, Jeremy L.;
    • Scheffer, Ingrid E.;
    • Jones, Dean L.
    Publication type:
    Article

  • Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
    By:
    • Burgess, Trent;
    • Brown, Natasha J.;
    • Stark, Zornitza;
    • Bruno, Damien L.;
    • Oertel, Ralph;
    • Chong, Belinda;
    • Calabro, Vanessa;
    • Kornberg, Andrew;
    • Sanderson, Christine;
    • Kelly, Julian;
    • Howell, Katherine B.;
    • Savarirayan, Ravi;
    • Hinds, Rupert;
    • Greenway, Anthea;
    • Slater, Howard R.;
    • White, Susan M.
    Publication type:
    Article

  • The severe epilepsy syndromes of infancy: A population‐based study.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. 358, doi. 10.1111/epi.16810
    By:
    • Howell, Katherine B.;
    • Freeman, Jeremy L.;
    • Mackay, Mark T.;
    • Fahey, Michael C.;
    • Archer, John;
    • Berkovic, Samuel F.;
    • Chan, Eunice;
    • Dabscheck, Gabriel;
    • Eggers, Stefanie;
    • Hayman, Michael;
    • Holberton, James;
    • Hunt, Rodney W.;
    • Jacobs, Susan E.;
    • Kornberg, Andrew J.;
    • Leventer, Richard J.;
    • Mandelstam, Simone;
    • McMahon, Jacinta M.;
    • Mefford, Heather C.;
    • Panetta, Julie;
    • Riseley, Jessica
    Publication type:
    Article

  • A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.

    Published in:
    Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1177, doi. 10.1111/epi.14087
    By:
    • the Victorian Severe Epilepsy of Infancy Study Group;
    • Howell, Katherine B.;
    • Harvey, A. Simon;
    • Scheffer, Ingrid E.;
    • Carvill, Gemma L.;
    • Mandelstam, Simone;
    • Eggers, Stefanie;
    • Riseley, Jessica;
    • Dalziel, Kim;
    • Myers, Candace T.;
    • Mefford, Heather C.;
    • McMahon, Jacinta M.;
    • Schneider, Amy
    Publication type:
    Article

  • Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.

    Published in:
    Epilepsia (Series 4), 2016, v. 57, n. 3, p. 343, doi. 10.1111/epi.13306
    By:
    • Howell, Katherine B.;
    • Harvey, A. Simon;
    • Archer, John S.
    Publication type:
    Article

  • Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 7, p. e122, doi. 10.1111/j.1528-1167.2012.03494.x
    By:
    • Howell, Katherine B.;
    • Tiedemann, Karin;
    • Haeusler, Gabrielle;
    • Mackay, Mark T.;
    • Kornberg, Andrew J.;
    • Freeman, Jeremy L.;
    • Harvey, A. Simon
    Publication type:
    Article

  • Long-term follow-up of febrile infection-related epilepsy syndrome.

    Published in:
    Epilepsia (Series 4), 2012, v. 53, n. 1, p. 101, doi. 10.1111/j.1528-1167.2011.03350.x
    By:
    • Howell, Katherine B.;
    • Katanyuwong, Kamornwan;
    • Mackay, Mark T.;
    • Bailey, Catherine A.;
    • Scheffer, Ingrid E.;
    • Freeman, Jeremy L.;
    • Berkovic, Samuel F.;
    • Harvey, A. Simon
    Publication type:
    Article

  • Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

    Published in:
    Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 203, doi. 10.1002/mgg3.133
    By:
    • Marques, Isabel;
    • Sá, Maria João;
    • Soares, Gabriela;
    • Mota, Maria do Céu;
    • Pinheiro, Carla;
    • Aguiar, Lisa;
    • Amado, Marta;
    • Soares, Christina;
    • Calado, Angelina;
    • Dias, Patrícia;
    • Sousa, Ana Berta;
    • Fortuna, Ana Maria;
    • Santos, Rosário;
    • Howell, Katherine B.;
    • Ryan, Monique M.;
    • Leventer, Richard J;
    • Sachdev, Rani;
    • Catford, Rachael;
    • Friend, Kathryn;
    • Mattiske, Tessa R.
    Publication type:
    Article