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Ingrid E Scheffer

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Credit Name
Ingrid E Scheffer
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Scheffer, Ingrid E
 
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Publications

Results 321-340 of 386 (Search time: 0.012 seconds).

Publication YearTitleAuthor(s)
32120-Nov-2012Do mutations in SCN1B cause Dravet syndrome?Kim, Young Ok; Dibbens, Leanne M; Marini, Carla; Suls, Arvid; Chemaly, Nicole; Mei, Davide; McMahon, Jacinta M; Iona, Xenia; Berkovic, Samuel F ; De Jonghe, Peter; Guerrini, Renzo; Nabbout, Rima; Scheffer, Ingrid E 
21-Nov-2012Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.Arsov, Todor; Mullen, Saul A ; Rogers, Sue; Phillips, A Marie; Lawrence, Kate M; Damiano, John Anthony; Goldberg-Stern, Hadassa; Afawi, Zaid; Kivity, Sara; Trager, Chantal; Petrou, Steven; Berkovic, Samuel F ; Scheffer, Ingrid E 
325-Oct-2012Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.Arsov, Todor; Mullen, Saul A ; Damiano, John Anthony; Lawrence, Kate M; Huh, Linda L; Nolan, Melinda; Young, Helen ; Thouin, Anaïs; Dahl, Hans-Henrik M; Berkovic, Samuel F ; Crompton, Douglas E; Sadleir, Lynette G; Scheffer, Ingrid E 
410-Jul-2012Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.Klein, Karl Martin; O'Brien, Terence J; Praveen, Kavita; Heron, Sarah E; Mulley, John C; Foote, Simon; Berkovic, Samuel F ; Scheffer, Ingrid E 
51-Jul-2012Epilepsy: a classification for all seasons?Scheffer, Ingrid E 
616-Jun-2012Diagnosis and long-term course of Dravet syndrome.Scheffer, Ingrid E 
73-Mar-2012Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.Carranza Rojo, Daniel; Harvey, A Simon; Iona, Xenia; Dibbens, Leanne M; Damiano, John Anthony; Arsov, Todor; Gill, Deepak S; Freeman, Jeremy L; Leventer, Richard J; Vincent, Angela; Berkovic, Samuel F ; McMahon, Jacinta M; Scheffer, Ingrid E 
85-Jan-2012Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes.Vears, Danya F; Tsai, Meng-Han; Sadleir, Lynette G; Grinton, Bronwyn E; Lillywhite, Leasha M; Carney, Patrick W ; Harvey, A Simon; Berkovic, Samuel F ; Scheffer, Ingrid E 
913-Jul-2011De novo SCN1A mutations in migrating partial seizures of infancy.Carranza Rojo, D; Hamiwka, L; McMahon, Jacinta M; Dibbens, Leanne M; Arsov, Todor; Suls, A; Stödberg, T; Kelley, K; Wirrell, E; Appleton, B; Mackay, M; Freeman, J L; Yendle, S C; Berkovic, Samuel F ; Bienvenu, T; De Jonghe, Peter; Thorburn, D R; Mulley, John C; Mefford, Heather C; Scheffer, Ingrid E 
101-Jul-2011Genetic testing in epilepsy: what should you be doing?Scheffer, Ingrid E 
1119-Apr-2011A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.Klein, K M; Yendle, S C; Harvey, A Simon; Antony, J H; Wallace, G; Bienvenu, T; Scheffer, Ingrid E 
121-Jan-2011Genetics of the epilepsies: channelopathies and beyond.Scheffer, Ingrid E 
1330-Sep-2010Timing of de novo mutagenesis--a twin study of sodium-channel mutations.Vadlamudi, Lata; Dibbens, Leanne M; Lawrence, Kate M; Iona, Xenia; McMahon, Jacinta M; Murrell, Wayne; Mackay-Sim, Alan; Scheffer, Ingrid E ; Berkovic, Samuel F 
1423-Sep-2010Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.Crompton, Douglas E; Scheffer, Ingrid E ; Taylor, Isabella; Cook, Mark J; McKelvie, Penelope A; Vears, Danya F; Lawrence, Kate M; McMahon, Jacinta M; Grinton, Bronwyn E; McIntosh, Anne M ; Berkovic, Samuel F 
1511-Aug-2010The core network in absence epilepsy. Differences in cortical and thalamic BOLD response.Carney, Patrick W ; Masterton, Richard A J; Harvey, A Simon; Scheffer, Ingrid E ; Berkovic, Samuel F ; Jackson, Graeme D 
1623-Jun-2010Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.Mullen, Saul A ; Suls, A; De Jonghe, Peter; Berkovic, Samuel F ; Scheffer, Ingrid E 
176-Feb-2010Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS).Masterton, Richard A J; Harvey, A Simon; Archer, John S ; Lillywhite, Leasha M; Abbott, David F ; Scheffer, Ingrid E ; Jackson, Graeme D 
181-Feb-2010Genetics of the epilepsies: genetic twists in the channels and other tales.Scheffer, Ingrid E ; Zhang, Yue-Hua; Gecz, Jozef; Dibbens, Leanne M
191-Jan-2010Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies.Scheffer, Ingrid E ; Berkovic, Samuel F 
209-Mar-2009Does a SCN1A gene mutation confer earlier age of onset of febrile seizures in GEFS+?Sijben, Angelique E J; Sithinamsuwan, Pasiri; Radhakrishnan, Ashalata; Badawy, Radwa A B; Dibbens, Leanne M; Mazarib, Aziz; Lev, Dorit; Lerman-Sagie, Tally; Straussberg, Rachel; Berkovic, Samuel F ; Scheffer, Ingrid E