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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 301-320 of 386 (Search time: 0.013 seconds).

Publication YearTitleAuthor(s)
30117-Apr-2014Reduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.Reid, Christopher A; Leaw, Bryan; Richards, Kay L; Richardson, Robert; Wimmer, Verena; Yu, Christiaan; Hill-Yardin, Elisa L; Lerche, Holger; Scheffer, Ingrid E ; Berkovic, Samuel F ; Petrou, Steven
30214-Apr-2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.Scheffer, Ingrid E ; Heron, Sarah E; Regan, Brigid M; Mandelstam, Simone A; Crompton, Douglas E; Hodgson, Bree L; Licchetta, Laura; Provini, Federica; Bisulli, Francesca; Vadlamudi, Lata; Gecz, Jozef; Connelly, Alan; Tinuper, Paolo; Ricos, Michael G; Berkovic, Samuel F ; Dibbens, Leanne M
30324-Mar-2014A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.Puskarjov, Martin; Seja, Patricia; Heron, Sarah E; Williams, Tristiana C; Ahmad, Faraz; Iona, Xenia; Oliver, Karen L; Grinton, Bronwyn E; Vutskits, Laszlo; Scheffer, Ingrid E ; Petrou, Steven; Blaesse, Peter; Dibbens, Leanne M; Berkovic, Samuel F ; Kaila, Kai
30412-Mar-2014GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.Carvill, Gemma L; Weckhuysen, Sarah; McMahon, Jacinta M; Hartmann, Corinna; Møller, Rikke S; Hjalgrim, Helle; Cook, Joseph; Geraghty, Eileen; O'Roak, Brian J; Petrou, Steven; Clarke, Alison; Gill, Deepak S; Sadleir, Lynette G; Muhle, Hiltrud; von Spiczak, Sarah; Nikanorova, Marina; Hodgson, Bree L; Gazina, Elena V; Suls, Arvid; Shendure, Jay; Dibbens, Leanne M; De Jonghe, Peter; Helbig, Ingo; Berkovic, Samuel F ; Scheffer, Ingrid E ; Mefford, Heather C
30510-Mar-2014Epilepsy genetics revolutionizes clinical practice.Scheffer, Ingrid E 
30631-Jan-2014Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Oliver, Karen L; Dahl, Hans-Henrik M; Scheffer, Ingrid E ; Berkovic, Samuel F 
30725-Jan-2014Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.Martin, Hilary C; Kim, Grace E; Pagnamenta, Alistair T; Murakami, Yoshiko; Carvill, Gemma L; Meyer, Esther; Copley, Richard R; Rimmer, Andrew; Barcia, Giulia; Fleming, Matthew R; Kronengold, Jack; Brown, Maile R; Hudspith, Karl A; Broxholme, John; Kanapin, Alexander; Cazier, Jean-Baptiste; Kinoshita, Taroh; Nabbout, Rima; Bentley, David; McVean, Gil; Heavin, Sinéad; Zaiwalla, Zenobia; McShane, Tony; Mefford, Heather C; Shears, Deborah; Stewart, Helen; Kurian, Manju A; Scheffer, Ingrid E ; Blair, Edward; Donnelly, Peter; Kaczmarek, Leonard K; Taylor, Jenny C
30810-Jan-2014Does variation in NIPA2 contribute to genetic generalized epilepsy?Hildebrand, Michael S ; Damiano, John Anthony; Mullen, Saul A ; Bellows, Susannah T; Scheffer, Ingrid E ; Berkovic, Samuel F 
30925-Oct-2013Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.Kim, Young Ok; Bellows, Susannah; McMahon, Jacinta M; Iona, Xenia; Damiano, John Anthony; Dibbens, Leanne M; Kelley, Kent; Gill, Deepak S; Cross, Judith Helen; Berkovic, Samuel F ; Scheffer, Ingrid E 
3109-Oct-2013Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Weckhuysen, Sarah; Ivanovic, Vanja; Hendrickx, Rik; Van Coster, Rudy; Hjalgrim, Helle; Møller, Rikke S; Grønborg, Sabine; Schoonjans, An-Sofie; Ceulemans, Berten; Heavin, Sinead B; Eltze, Christin; Horvath, Rita; Casara, Gianluca; Pisano, Tiziana; Giordano, Lucio; Rostasy, Kevin; Haberlandt, Edda; Albrecht, Beate; Bevot, Andrea; Benkel, Ira; Syrbe, Steffan; Sheidley, Beth; Guerrini, Renzo; Poduri, Annapurna; Lemke, Johannes R; Mandelstam, Simone A; Scheffer, Ingrid E ; Angriman, Marco; Striano, Pasquale; Marini, Carla; Suls, Arvid; De Jonghe, Peter
31125-Sep-2013Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.Mullen, Saul A ; Carvill, Gemma L; Bellows, Susannah; Bayly, Marta A; Trucks, Holger; Lal, Dennis; Sander, Thoman; Berkovic, Samuel F ; Dibbens, Leanne M; Scheffer, Ingrid E ; Mefford, Heather C
31213-Jun-2013Head stereotypies in STXBP1 encephalopathy.Kim, Young Ok; Korff, Christian M; Villaluz, Mel Michel G; Suls, Arvid; Weckhuysen, Sarah; De Jonghe, Peter; Scheffer, Ingrid E 
3137-Jun-2013Etiology of hippocampal sclerosis: evidence for a predisposing familial morphologic anomaly.Tsai, Meng-Han; Pardoe, Heath R; Perchyonok, Yuliya ; Fitt, Gregory J ; Scheffer, Ingrid E ; Jackson, Graeme D ; Berkovic, Samuel F 
31416-Apr-2013Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.Klein, Karl Martin; Bromhead, Catherine J; Smith, Katherine R; O'Callaghan, Christopher J ; Corcoran, Susan J; Heron, Sarah E; Iona, Xenia; Hodgson, Bree L; McMahon, Jacinta M; Lawrence, Kate M; Scheffer, Ingrid E ; Dibbens, Leanne M; Bahlo, Melanie; Berkovic, Samuel F 
31521-Mar-2013Genetics of febrile seizure subtypes and syndromes: a twin study.Eckhaus, Jazmin; Lawrence, Kate M; Helbig, Ingo; Bui, Minh; Vadlamudi, Lata; Hopper, John L; Scheffer, Ingrid E ; Berkovic, Samuel F 
31613-Mar-2013Genetics of epilepsy syndromes in families with photosensitivity.Taylor, Isabella; Berkovic, Samuel F ; Scheffer, Ingrid E 
3176-Mar-2013Recent advances in the molecular genetics of epilepsy.Hildebrand, Michael S ; Dahl, Hans-Henrik M; Damiano, John Anthony; Smith, Richard J H; Scheffer, Ingrid E ; Berkovic, Samuel F 
3188-Jan-2013Epilepsy in 2012: Advances in epilepsy shed light on key questions.Scheffer, Ingrid E ; Mullen, Saul A 
3197-Jan-2013Clinical genetic study of the epilepsy-aphasia spectrum.Tsai, Meng-Han; Vears, Danya F; Turner, Samantha J; Smith, Robert L; Berkovic, Samuel F ; Sadleir, Lynette G; Scheffer, Ingrid E 
3207-Jan-2013Siblings 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