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| | Publication Year | Title | Author(s) |
| 241 | 2023 | Extended follow-up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years post-surgery. | McIntosh, Anne M ; Wynd, Alex W ; Berkovic, Samuel F |
| 2 | 9-Oct-2013 | Extending 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 |
| 3 | Jul-2020 | Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. | Bennett, Mark F ; Oliver, Karen L; Regan, Brigid M; Bellows, Susannah T; Schneider, Amy L ; Rafehi, Haloom; Sikta, Neblina; Crompton, Douglas E; Coleman, Matthew; Hildebrand, Michael S ; Corbett, Mark A; Kroes, Thessa; Gecz, Jozef; Scheffer, Ingrid E ; Berkovic, Samuel F ; Bahlo, Melanie |
| 4 | 2000 | Familial epilepsies: quality of life issues in genetic research. | Berkovic, Samuel F |
| 5 | Aug-2017 | Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. | Corbett, Mark A; Turner, Samantha J; Gardner, Alison; Silver, Jeremy; Stankovich, Jim; Leventer, Richard J; Derry, Christopher P; Carroll, Renée; Ha, Thuong; Scheffer, Ingrid E ; Bahlo, Melanie; Jackson, Graeme D ; Mackey, David A; Berkovic, Samuel F ; Gecz, Jozef |
| 6 | 10-Jul-2012 | Familial 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 |
| 7 | 1-Sep-2010 | Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria. | Lawrence, Kate M; Mei, Davide; Newton, Mark R; Leventer, Richard J; Guerrini, Renzo; Berkovic, Samuel F |
| 8 | Aug-2017 | Familial mesial temporal lobe epilepsy and the borderland of déjà vu | Perucca, Piero ; Crompton, Douglas E; Bellows, Susannah T; McIntosh, Anne M ; Kalincik, Tomas; Newton, Mark R; Vajda, Frank JE; Scheffer, Ingrid E ; Kwan, Patrick; O'Brien, Terence J; Tan, K Meng; Berkovic, Samuel F |
| 9 | 23-Sep-2010 | Familial 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 |
| 10 | Nov-2023 | Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture. | Harris, Rebekah V; Oliver, Karen L; Perucca, Piero ; Striano, Pasquale; Labate, Angelo; Riva, Antonella; Grinton, Bronwyn E; Reid, Joshua; Hutton, Jessica; Todaro, Marian; O'Brien, Terence J; Kwan, Patrick; Sadleir, Lynette G; Mullen, Saul A ; Dazzo, Emanuela; Crompton, Douglas E; Scheffer, Ingrid E ; Bahlo, Melanie; Nobile, Carlo; Gambardella, Antonio; Berkovic, Samuel F |
| 11 | 1-Dec-1998 | Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. | Scheffer, Ingrid E ; Phillips, H A; O'Brien, C E; Saling, Michael M ; Wrennall, J A; Wallace, Robyn H; Mulley, John C; Berkovic, Samuel F |
| 12 | 1-Sep-2004 | Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. | Berkovic, Samuel F ; Serratosa, Jose M; Phillips, Hilary A; Xiong, Lan; Andermann, Eva; Díaz-Otero, Fernando; Gómez-Garre, Pilar; Martín, Mercedes; Fernández-Bullido, Yolanda; Andermann, Frederick; Lopes-Cendes, Iscia; Dubeau, Francois; Desbiens, Richard; Scheffer, Ingrid E ; Wallace, Robyn H; Mulley, John C; Pandolfo, Massimo |
| 13 | 2022 | A family study implicates GBE1 in the etiology of autism spectrum disorder. | Fanjul-Fernández, Miriam; Brown, Natasha J; Hickey, Peter; Diakumis, Peter; Rafehi, Haloom; Bozaoglu, Kiymet; Green, Cherie C; Rattray, Audrey; Young, Savannah; Alhuzaimi, Dana; Mountford, Hayley S; Gillies, Greta; Lukic, Vesna; Vick, Tanya; Finlay, Keri; Coe, Bradley P; Eichler, Evan E; Delatycki, Martin B ; Wilson, Sarah J; Bahlo, Melanie; Scheffer, Ingrid E ; Lockhart, Paul J |
| 14 | May-2023 | The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies. | Scheffer, Ingrid E |
| 15 | Apr-2017 | Fatal Cerebral Edema With Status Epilepticus in Children With Dravet Syndrome: Report of Cases. | Myers, Kenneth A; McMahon, Jacinta M; Mandelstam, Simone A; Mackay, Mark T; Kalnins, Renate M; Leventer, Richard J; Scheffer, Ingrid E |
| 16 | Jan-2021 | FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability. | Schneider, Amy L ; Myers, Candace T; Muir, Alison M; Calvert, Sophie; Basinger, Alice; Perry, M Scott; Rodan, Lance; Helbig, Katherine L; Chambers, Chelsea; Gorman, Kathleen M; King, Mary D; Donkervoort, Sandra; Soldatos, Ariane; Bönnemann, Carsten G; Spataro, Nino; Gabau, Elisabeth; Arellano, Montserrat; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rossignol, Elsa; Hamdan, Fadi F; Michaud, Jacques L; Balak, Christopher; Mefford, Heather C; Scheffer, Ingrid E |
| 17 | Apr-2017 | Features of the broader autism phenotype in people with epilepsy support shared mechanisms between epilepsy and autism spectrum disorder. | Richard, Annie E; Scheffer, Ingrid E ; Wilson, Sarah J |
| 18 | 3-Mar-2012 | Febrile 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 |
| 19 | 1-Dec-2005 | Febrile seizures. | Srinivasan, Jayasri; Wallace, Katherine A; Scheffer, Ingrid E |
| 20 | 1-Apr-1998 | Febrile seizures: genetics and relationship to other epilepsy syndromes. | Berkovic, Samuel F ; Scheffer, Ingrid E |
