Berkovic, Samuel: search on Z-Library

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51

Recurrent generalized seizures, visual loss, and palinopsia as phenotypic features of neuronal ceroid lipofuscinosis due to progranulin gene mutation

Canafoglia, Laura, Morbin, Michela, Scaioli, Vidmer, Pareyson, Davide, D'Incerti, Ludovico, Fugnanesi, Valeria, Tagliavini, Fabrizio, Berkovic, Samuel F., Franceschetti, Silvana

Journal:

Year:

2014

Language:

english

File:

PDF, 527 KB

english, 2014

52

The Nature and Duration of Acute Concussive Symptoms in Australian Football

McCrory, Paul R., Ariens, Mark, Berkovic, Samuel F.

Journal:

Clinical Journal of Sport Medicine

Year:

2000

Language:

english

File:

PDF, 48 KB

english, 2000

53

Endozepine Stupor: Disease or Deception? A Critical Review

Granot, Ron, Berkovic, Samuel F, Patterson, Scott, Hopwood, Malcolm, Drummer, Olaf H., Mackenzie, Rod

Journal:

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

54

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

Veen, Sterre, Zutt, Rodi, Klein, Christine, Marras, Connie, Berkovic, Samuel F., Caviness, John N., Shibasaki, Hiroshi, Koning, Tom J., Tijssen, Marina A.J.

Journal:

Movement Disorders

Year:

2019

File:

PDF, 277 KB

2019

55

Human GABRG2 generalized epilepsy

Pedersen, Mangor, Kowalczyk, Magdalena, Omidvarnia, Amir, Perucca, Piero, Gooley, Samuel, Petrou, Steven, Scheffer, Ingrid E., Berkovic, Samuel F., Jackson, Graeme D.

Journal:

Neurology: Genetics

Year:

2019

File:

PDF, 374 KB

2019

56

Reply

Saul A. Mullen, Arvid Suls, Peter De Jonghe, Samuel F. Berkovic, Ingrid E. Scheffer

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 51 KB

english, 2010

57

Seizure-associated hippocampal volume loss: A longitudinal magnetic resonance study of temporal lobe epilepsy

Regula S. Briellmann, Samuel F. Berkovic, Ari Syngeniotis, Mark A. King, Graeme D. Jackson

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.72 MB

english, 2002

58

Navigating the channels and beyond: unravelling the genetics of the epilepsies

Ingo Helbig, Ingrid E Scheffer, John C Mulley, Samuel F Berkovic

Journal:

The Lancet Neurology

Year:

2008

Language:

english

File:

PDF, 522 KB

english, 2008

59

Febrile seizures and hippocampal sclerosis: Frequent and related findings in intractable temporal lobe epilepsy of childhood

A.Simon Harvey, J.Damien Grattan-Smith, Patricia M. Desmond, C.W. Chow, Samuel F. Berkovic

Journal:

Pediatric Neurology

Year:

1995

Language:

english

File:

PDF, 553 KB

english, 1995

60

Mechanisms of human inherited epilepsies

Christopher A. Reid, Samuel F. Berkovic, Steven Petrou

Journal:

Progress in Neurobiology

Year:

2009

Language:

english

File:

PDF, 352 KB

english, 2009

61

The genetics of human epilepsy

Ingrid E. Scheffer, Samuel F. Berkovic

Journal:

Trends in Pharmacological Sciences

Year:

2003

Language:

english

File:

PDF, 138 KB

english, 2003

62

Channelopathies as a genetic cause of epilepsy

Mulley, John C., Scheffer, Ingrid E., Petrou, Steven, Berkovic, Samuel F.

Journal:

Current Opinion in Neurology

Year:

2003

Language:

english

File:

PDF, 142 KB

english, 2003

63

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis

Mole, Sara E, Anderson, Glenn, Band, Heather A, Berkovic, Samuel F, Cooper, Jonathan D, Kleine Holthaus, Sophia-Martha, McKay, Tristan R, Medina, Diego L, Rahim, Ahad A, Schulz, Angela, Smith, Alexand

Journal:

The Lancet Neurology

Year:

2018

Language:

english

File:

PDF, 126 KB

english, 2018

64

Epilepsy in Families: Age at onset is a familial trait, independent of syndrome

Ellis, Colin A., Churilov, Leonid, Epstein, Michael P., Xie, Sharon X., Bellows, Susannah T., Ottman, Ruth, Berkovic, Samuel F.

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 480 KB

english, 2019

65

Neurological disorders

Hankey, Graeme J, Berkovic, Samuel F

Journal:

The Medical Journal of Australia

Year:

2000

File:

PDF, 843 KB

2000

66

Anterior temporal encephaloceles: Elusive, important, and rewarding to treat

Tse, Gabrielle T., Frydman, Aviva S., OâShea, Marie F., Fitt, Greg J., Weintrob, David L., Murphy, Michael A., Fabinyi, Gavin C., Bulluss, Kristian J., Cook, Mark J., Berkovic, Samuel F.

Journal:

Year:

2020

File:

PDF, 705 KB

2020

67

Ictal postictal and interictal single-photon emission tomography in the lateralization of temporal lobe epilepsy

Mark R. Newton, Samuel F. Berkovic, Mark C. Austin, Christopher C. Rowe, W. John McKay, Peter F. Bladin

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

1994

Language:

english

File:

PDF, 1.52 MB

english, 1994

68

Localization of epileptic foci by single-photon emission tomography with new radiotracers

Jyrki T. Kuikka, Samuel F. Berkovic

Journal:

European Journal of Nuclear Medicine and Molecular Imaging

Year:

1994

Language:

english

File:

PDF, 146 KB

english, 1994

69

Benign Partial Seizures of Adolescence

Mark A. King, Mark R. Newton, Samuel F. Berkovic

Journal:

Year:

1999

Language:

english

File:

PDF, 346 KB

english, 1999

70

Profiles of psychosocial outcome after epilepsy surgery: The role of personality

Sarah J. Wilson, Joanne M. Wrench, Anne M. McIntosh, Peter F. Bladin, Samuel F. Berkovic

Journal:

Year:

2010

Language:

english

File:

PDF, 329 KB

english, 2010

71

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study

Samuel F Berkovic, Louise Harkin, Jacinta M McMahon, James T Pelekanos, Sameer M Zuberi, Elaine C Wirrell, Deepak S Gill, Xenia Iona, John C Mulley, Ingrid E Scheffer

Journal:

The Lancet Neurology

Year:

2006

Language:

english

File:

PDF, 110 KB

english, 2006

72

Rare protein sequence variation in SV2A gene does not affect response to levetiracetam

Dibbens, Leanne M., Hodgson, Bree L., Helbig, Katherine L., Oliver, Karen L., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E.

Journal:

Epilepsy Research

Year:

2012

Language:

english

File:

PDF, 147 KB

english, 2012

73

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

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,

Journal:

Annals of Neurology

Year:

2013

Language:

english

File:

PDF, 283 KB

english, 2013

74

KUFS' DISEASE: A CRITICAL REAPPRAISAL

BERKOVIC, SAMUEL F., CARPENTER, STIRLING, ANDERMANN, FREDERICK, ANDERMANN, EVA, WOLFE, LEONHARD S.

Journal:

Year:

1988

Language:

english

File:

PDF, 4.36 MB

english, 1988

75

Association of a Nicotinic Receptor Mutation with Reduced Height and Blunted Physostigmine-Stimulated Growth Hormone Release

Fedi, Marco, Bach, Leon A., Berkovic, Samuel F., Willoughby, John O., Scheffer, Ingrid E., Reutens, David C.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

76

Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy

Tsai, Meng-Han, Vaughan, David N., Perchyonok, Yuliya, Fitt, Greg J., Scheffer, Ingrid E., Berkovic, Samuel F., Jackson, Graeme D.

Journal:

Year:

2016

Language:

english

File:

PDF, 465 KB

english, 2016

77

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

McGlade, Amelia, Myers, Kenneth A., Berkovic, Samuel F., Scheffer, Ingrid E., Petrovski, Slavé, Hildebrand, Michael S.

Journal:

Annals of Clinical and Translational Neurology

Year:

2017

Language:

english

File:

PDF, 69 KB

english, 2017

78

Precision therapy for epilepsy due to KCNT1 mutations

Mullen, Saul A., Carney, Patrick W., Roten, Annie, Ching, Michael, Lightfoot, Paul A., Churilov, Leonid, Nair, Umesh, Li, Melody, Berkovic, Samuel F., Petrou, Steven, Scheffer, Ingrid E.

Journal:

Year:

2017

Language:

english

File:

PDF, 360 KB

english, 2017

79

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Berecki, Géza, Howell, Katherine B., Deerasooriya, Yadeesha H., Cilio, Maria Roberta, Oliva, Megan K., Kaplan, David, Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

Journal:

Proceedings of the National Academy of Sciences

Year:

2018

Language:

english

File:

PDF, 1.99 MB

english, 2018

80

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Oliver, Karen L., Lukic, Vesna, Thorne, Natalie P., Berkovic, Samuel F., Scheffer, Ingrid E., Bahlo, Melanie, Zhou, Fengfeng

Journal:

Year:

2014

Language:

english

File:

PDF, 2.04 MB

english, 2014

81

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Kinay, Demet, Oliver, Karen L., Tüzün, Erdem, Damiano, John A., Ulusoy, Canan, Andermann, Eva, Hildebrand, Michael S., Bahlo, Melanie, Berkovic, Samuel F.

Journal:

Year:

2018

Language:

english

File:

PDF, 502 KB

english, 2018

82

Epilepsy genetics: clinical impacts and biological insights

Ellis, Colin A, Petrovski, Slavé, Berkovic, Samuel F

Journal:

The Lancet Neurology

Year:

2019

File:

PDF, 975 KB

2019

83

Metabolic disorders presenting as stroke

Berkovic, Samuel F., Bladin, Peter F., Darby, David C.

Journal:

The Medical Journal of Australia

Year:

1984

File:

PDF, 499 KB

1984

84

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

Ellis, Colin A., Ottman, Ruth, Epstein, Michael P., Berkovic, Samuel F.

Journal:

Year:

2020

File:

PDF, 652 KB

2020

85

Locus for febrile seizures

Ingrid E. Scheffer, Robyn H. Wallace, John C. Mulley, Samuel F. Berkovic

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 546 KB

english, 2000

86

Hippocampal sclerosis in temporal lobe epilepsy demonstrated by magnetic resonance imaging

Samuel F. Berkovic, Dr Frederick Andermann, André Olivier, Roméo Ethier, Denis Melanson, Yvon Robitaille, Ruben Kuzniecky, Terence Peters, William Feindel

Journal:

Annals of Neurology

Year:

1991

Language:

english

File:

PDF, 942 KB

english, 1991

87

Significance of post-operative auras after temporal lobectomy: A surprising methodological trap

Daniel W. Kinsella, Clare A. Averill, Samuel F. Berkovic, Anne M. McIntosh

Journal:

Epilepsy & Behavior

Year:

2012

Language:

english

File:

PDF, 541 KB

english, 2012

88

Proconvulsant-induced seizures in α4 nicotinic acetylcholine receptor subunit knockout mice

John Y.F. Wong, Shelley A. Ross, Craig McColl, Jim S. Massalas, Emma Powney, David I. Finkelstein, Malcolm Clark, Malcolm K. Horne, Samuel F. Berkovic, John Drago

Journal:

Neuropharmacology

Year:

2002

Language:

english

File:

PDF, 119 KB

english, 2002

89

Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, Michaella C. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, St

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 1009 KB

english, 2002

90

627: Diagnosing bumps in the night: Distinguishing parasomnias from NFLE using video EEG monitoring

Christopher P. Derry, Simon Harvey, John Duncan, Matthew Walker, Samuel F. Berkovic

Journal:

Journal of Clinical Neuroscience

Year:

2007

Language:

english

File:

PDF, 37 KB

english, 2007

91

Scale for Distinguishing Sleep Disorders From Seizures—Reply

Derry, Christopher Paul, Berkovic, Samuel F.

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 44 KB

english, 2007

92

Siblings with refractory occipital epilepsy showing localized network activity on EEG-fMRI

Carney, Patrick W., Harvey, A. Simon, Berkovic, Samuel F., Jackson, Graeme D., Scheffer, Ingrid E.

Journal:

Year:

2013

Language:

english

File:

PDF, 250 KB

english, 2013

93

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

Allen, Andrew S, Berkovic, Samuel F, Bridgers, Joshua, Cossette, Patrick, Dlugos, Dennis, Epstein, Michael P, Glauser, Tracy, Goldstein, David B, Heinzen, Erin L, Jiang, Yu, Johnson, Michael R, Kuznie

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 178 KB

english, 2017

94

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

Mulley, John C., Iona, Xenia, Hodgson, Bree, Heron, Sarah E., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.

Journal:

Neurology Research International

Year:

2011

Language:

english

File:

PDF, 1.20 MB

english, 2011

95

Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group

Samarasekera, Shanika R., Wynd, Alex W., McIntosh, Anne M., Berkovic, Samuel F.

Journal:

Epilepsy Research

Year:

2019

Language:

english

File:

PDF, 345 KB

english, 2019

96

Action to improve awareness, participation, care and support for people with epilepsy

Essue, Beverley M, Jan, Stephen, Hackett, Maree L, Bleasel, Andrew F, Ireland, Carol A, Berkovic, Samuel F, Anderson, Craig S

Journal:

The Medical Journal of Australia

Year:

2011

File:

PDF, 76 KB

2011

97

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

Sarah E. Heron, Houman Khosravani, Diego Varela, Chris Bladen, Tristiana C. Williams, Michelle R. Newman, Ingrid E. Scheffer, Samuel F. Berkovic, John C. Mulley, Gerald W. Zamponi

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 335 KB

english, 2007

98

Mild adolescent/adult onset epilepsy and paroxysmal exercise-induced dyskinesia due to GLUT1 deficiency

Zaid Afawi, Arvid Suls, Dana Ekstein, Sara Kivity, Miriam Y Neufeld, Karen Oliver, Peter De Jonghe, Amos D Korczyn, Samuel F. Berkovic

Journal:

Year:

2010

Language:

english

File:

PDF, 394 KB

english, 2010

99

A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2

Claudia Perandones, Federico E. Micheli, Luis A. Pellene, Marta A. Bayly, Samuel F. Berkovic, Leanne M. Dibbens

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 192 KB

english, 2012

100

35. Peripheral nerve excitability testing shows distinctive ion channel dysfunction in patients with KCNQ2 mutations and epilepsy

Susan E. Tomlinson, Bronwyn E. Grinton, Hugh Bostock, Michael G. Hanna, Matthew C. Kiernan, Samuel F. Berkovic, David Burke, Ingrid E. Scheffer

Journal:

Journal of Clinical Neuroscience

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

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