Spremljaj
Ingrid Scheffer
Ingrid Scheffer
Professor
Preverjeni e-poštni naslov na unimelb.edu.au
Naslov
Navedeno
Navedeno
Leto
ILAE official report: a practical clinical definition of epilepsy
RS Fisher, C Acevedo, A Arzimanoglou, A Bogacz, JH Cross, CE Elger, ...
Epilepsia 55 (4), 475-482, 2014
73542014
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005–2009
AT Berg, SF Berkovic, MJ Brodie, J Buchhalter, JH Cross, ...
Epilepsia 51 (4), 676-685, 2010
59552010
ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
IE Scheffer, S Berkovic, G Capovilla, MB Connolly, J French, L Guilhoto, ...
Epilepsia 58 (4), 512-521, 2017
57462017
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
RS Fisher, JH Cross, JA French, N Higurashi, E Hirsch, FE Jansen, ...
Epilepsia 58 (4), 522-530, 2017
39042017
A definition and classification of status epilepticus–Report of the ILAE Task Force on Classification of Status Epilepticus
E Trinka, H Cock, D Hesdorffer, AO Rossetti, IE Scheffer, S Shinnar, ...
Epilepsia 56 (10), 1515-1523, 2015
27032015
Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome
O Devinsky, JH Cross, L Laux, E Marsh, I Miller, R Nabbout, IE Scheffer, ...
New England Journal of Medicine 376 (21), 2011-2020, 2017
18672017
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
15532018
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
RH Wallace, DW Wang, R Singh, IE Scheffer, AL George, HA Phillips, ...
Nature genetics 19 (4), 366-370, 1998
14461998
A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
OK Steinlein, JC Mulley, P Propping, RH Wallace, HA Phillips, ...
Nature genetics 11 (2), 201-203, 1995
14321995
Instruction manual for the ILAE 2017 operational classification of seizure types
RS Fisher, JH Cross, C D'souza, JA French, SR Haut, N Higurashi, ...
Epilepsia 58 (4), 531-542, 2017
13822017
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
JG Gleeson, KM Allen, JW Fox, ED Lamperti, S Berkovic, I Scheffer, ...
Cell 92 (1), 63-72, 1998
11771998
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.
IE Scheffer, SF Berkovic
Brain: a journal of neurology 120 (3), 479-490, 1997
11031997
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
RH Wallace, C Marini, S Petrou, LA Harkin, DN Bowser, RG Panchal, ...
Nature genetics 28 (1), 49-52, 2001
10692001
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
JW Fox, ED Lamperti, YZ Ekşioğlu, SE Hong, Y Feng, DA Graham, ...
Neuron 21 (6), 1315-1325, 1998
9791998
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
GL Carvill, SB Heavin, SC Yendle, JM McMahon, BJ O'Roak, J Cook, ...
Nature genetics 45 (7), 825-830, 2013
7592013
Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder
IE Scheffer, KP Bhatia, I Lopes-Cendes, DR Fish, CD Marsden, ...
Brain 118 (1), 61-73, 1995
7241995
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium
Science (New York, NY) 360 (6395), eaap8757, 2018
7182018
Refining analyses of copy number variation identifies specific genes associated with developmental delay
BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ...
Nature genetics 46 (10), 1063-1071, 2014
6982014
The genetic landscape of the epileptic encephalopathies of infancy and childhood
A McTague, KB Howell, JH Cross, MA Kurian, IE Scheffer
The Lancet Neurology 15 (3), 304-316, 2016
6722016
Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group
EH Kossoff, BA Zupec‐Kania, S Auvin, KR Ballaban‐Gil, ...
Epilepsia open 3 (2), 175-192, 2018
6462018
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