GRIN2A mutations cause epilepsy-aphasia spectrum disorders von Carvill, Gemma L, Regan, Brigid M, Yendle, Simone C, O'Roak, Brian J, Lozovaya, Natalia, Bruneau, Nadine, Burnashev, Nail, Khan, Adiba, Cook, Joseph, Geraghty, Eileen, Sadleir, Lynette G, Turner, Samantha J, Tsai, Meng-Han, Webster, Richard, Ouvrier, Robert, Damiano, John A, Berkovic, Samuel F, Shendure, Jay, Hildebrand, Michael S, Szepetowski, Pierre, Scheffer, Ingrid E, Mefford, Heather C

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Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy von Hildebrand, Michael S., Griffin, Nicole G., Damiano, John A., Cops, Elisa J., Burgess, Rosemary, Ozturk, Ezgi, Jones, Nigel C., Leventer, Richard J., Freeman, Jeremy L., Harvey, A. Simon, Sadleir, Lynette G., Scheffer, Ingrid E., Major, Heather, Darbro, Benjamin W., Allen, Andrew S., Goldstein, David B., Kerrigan, John F., Berkovic, Samuel F., Heinzen, Erin L.

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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage von Smith, Katherine R., Damiano, John, Franceschetti, Silvana, Carpenter, Stirling, Canafoglia, Laura, Morbin, Michela, Rossi, Giacomina, Pareyson, Davide, Mole, Sara E., Staropoli, John F., Sims, Katherine B., Lewis, Jada, Lin, Wen-Lang, Dickson, Dennis W., Dahl, Hans-Henrik, Bahlo, Melanie, Berkovic, Samuel F.

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Glucose transporter 1 deficiency in the idiopathic generalized epilepsies von Arsov, Todor, Mullen, Saul A., Rogers, Sue, Phillips, A. Marie, Lawrence, Kate M., Damiano, John A., Goldberg-Stern, Hadassa, Afawi, Zaid, Kivity, Sara, Trager, Chantal, Petrou, Steven, Berkovic, Samuel F., Scheffer, Ingrid E.

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Genetic epilepsy with febrile seizures plus: Refining the spectrum von Zhang, Yue-Hua, Burgess, Rosemary, Malone, Jodie P, Glubb, Georgie C, Helbig, Katherine L, Vadlamudi, Lata, Kivity, Sara, Afawi, Zaid, Bleasel, Andrew, Grattan-Smith, Padraic, Grinton, Bronwyn E, Bellows, Susannah T, Vears, Danya F, Damiano, John A, Goldberg-Stern, Hadassa, Korczyn, Amos D, Dibbens, Leanne M, Ruzzo, Elizabeth K, Hildebrand, Michael S, Berkovic, Samuel F, Scheffer, Ingrid E

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Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes von Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina

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Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency von Arsov, Todor, Mullen, Saul A., Damiano, John A., 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.

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REAL-WORLD UTILITY OF WHOLE EXOME SEQUENCING WITH TARGETED GENE ANALYSIS FOR FOCAL EPILEPSY von Perucca, Piero, Scheffer, Ingrid E, Harvey, A. Simon, James, Paul A, Lunke, Sebastian, Thorne, Natalie, Gaff, Clara, Regan, Brigid M, Damiano, John A, Hildebrand, Michael S, Berkovic, Samuel F, O’Brien, Terence J, Kwan, Patrick

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Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum von Damiano, John A., Burgess, Rosemary, Kivity, Sara, Lerman‐Sagie, Tally, Afawi, Zaid, Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.

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Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes von Skotte, Line, Fadista, João, Bybjerg-Grauholm, Jonas, Appadurai, Vivek, Hildebrand, Michael S, Hansen, Thomas F, Banasik, Karina, Grove, Jakob, Albiñana, Clara, Geller, Frank, Bjurström, Carmen F, Vilhjálmsson, Bjarni J, Coleman, Matthew, Damiano, John A, Burgess, Rosemary, Scheffer, Ingrid E, Pedersen, Ole Birger Vesterager, Erikstrup, Christian, Westergaard, David, Nielsen, Kaspar René, Sørensen, Erik, Bruun, Mie Topholm, Liu, Xueping, Hjalgrim, Henrik, Pers, Tune H, Mortensen, Preben Bo, Mors, Ole, Nordentoft, Merete, Dreier, Julie W, Børglum, Anders D, Christensen, Jakob, Hougaard, David M, Buil, Alfonso, Hviid, Anders, Melbye, Mads, Ullum, Henrik, Berkovic, Samuel F, Werge, Thomas, Feenstra, Bjarke

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De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome von Myers, Kenneth A., Burgess, Rosemary, Afawi, Zaid, Damiano, John A., Berkovic, Samuel F., Hildebrand, Michael S., Scheffer, Ingrid E.

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Recognition and epileptology of protracted CLN3 disease von Cameron, Jillian M., Damiano, John A., Grinton, Bronwyn, Carney, Patrick W., McKelvie, Penny, Silbert, Peter, Lawn, Nicholas, Scheffer, Ingrid E., Oliver, Karen L., Hildebrand, Michael S., Berkovic, Samuel F.

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Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions von Green, Timothy E, Motelow, Joshua E, Bennett, Mark F, Ye, Zimeng, Bennett, Caitlin A, Griffin, Nicole G, Damiano, John A, Leventer, Richard J, Freeman, Jeremy L, Harvey, A Simon, Lockhart, Paul J, Sadleir, Lynette G, Boys, Amber, Scheffer, Ingrid E, Major, Heather, Darbro, Benjamin W, Bahlo, Melanie, Goldstein, David B, Kerrigan, John F, Heinzen, Erin L, Berkovic, Samuel F, Hildebrand, Michael S

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Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy von Gozzelino, Luca, Kochlamazashvili, Gaga, Baldassari, Sara, Mackintosh, Albert Ian, Licchetta, Laura, Iovino, Emanuela, Liu, Yu Chi, Bennett, Caitlin A, Bennett, Mark F, Damiano, John A, Zsurka, Gábor, Marconi, Caterina, Giangregorio, Tania, Magini, Pamela, Kuijpers, Marijn, Maritzen, Tanja, Norata, Giuseppe Danilo, Baulac, Stéphanie, Canafoglia, Laura, Seri, Marco, Tinuper, Paolo, Scheffer, Ingrid E, Bahlo, Melanie, Berkovic, Samuel F, Hildebrand, Michael S, Kunz, Wolfram S, Giordano, Lucio, Bisulli, Francesca, Martini, Miriam, Haucke, Volker, Hirsch, Emilio, Pippucci, Tommaso

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SCN1A Variants in vaccine‐related febrile seizures: A prospective study von Damiano, John A., Deng, Lucy, Li, Wenhui, Burgess, Rosemary, Schneider, Amy L., Crawford, Nigel W., Buttery, Jim, Gold, Michael, Richmond, Peter, Macartney, Kristine K., Hildebrand, Michael S., Scheffer, Ingrid E., Wood, Nicholas, Berkovic, Samuel F.

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A targeted resequencing gene panel for focal epilepsy von Hildebrand, Michael S, Myers, Candace T, Carvill, Gemma L, Regan, Brigid M, Damiano, John A, Mullen, Saul A, Newton, Mark R, Nair, Umesh, Gazina, Elena V, Milligan, Carol J, Reid, Christopher A, Petrou, Steven, Scheffer, Ingrid E, Berkovic, Samuel F, Mefford, Heather C

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Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features von Berkovic, Samuel F, Oliver, Karen L, Canafoglia, Laura, Krieger, Penina, Damiano, John A, Hildebrand, Michael S, Morbin, Michela, Vears, Danya F, Sofia, Vito, Giuliano, Loretta, Garavaglia, Barbara, Simonati, Alessandro, Santorelli, Filippo M, Gambardella, Antonio, Labate, Angelo, Belcastro, Vincenzo, Castellotti, Barbara, Ozkara, Cigdem, Zeman, Adam, Rankin, Julia, Mole, Sara E, Aguglia, Umberto, Farrell, Michael, Rajagopalan, Sulekha, McDougall, Alan, Brammah, Susan, Andermann, Frederick, Andermann, Eva, Dahl, Hans-Henrik M, Franceschetti, Silvana, Carpenter, Stirling

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Evaluation of non‐coding variation in GLUT1 deficiency von Liu, Yu‐Chi, Lee, Jia Wei Audrey, Bellows, Susannah T, Damiano, John A, Mullen, Saul A, Berkovic, Samuel F, Bahlo, Melanie, Scheffer, Ingrid E, Hildebrand, Michael S, Ryan, Monique M., Leventer, Richard J., Freeman, Jeremy L., Mackay, Mark T., Hayman, Michael, Rodriguez‐Casero, Victoria, Subramanian, Gopi, Webster, Richard, Sadleir, Lynette G.

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Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role von Hildebrand, Michael S., Damiano, John A., Mullen, Saul A., Bellows, Susannah T., Oliver, Karen L., Dahl, Hans‐Henrik M., Scheffer, Ingrid E., Berkovic, Samuel F.

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Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain von Ye, Zimeng, Chatterton, Zac, Pflueger, Jahnvi, Damiano, John A, McQuillan, Lara, Simon Harvey, A, Malone, Stephen, Do, Hongdo, Maixner, Wirginia, Schneider, Amy, Nolan, Bernadette, Wood, Martin, Lee, Wei Shern, Gillies, Greta, Pope, Kate, Wilson, Michael, Lockhart, Paul J, Dobrovic, Alexander, Scheffer, Ingrid E, Bahlo, Melanie, Leventer, Richard J, Lister, Ryan, Berkovic, Samuel F, Hildebrand, Michael S

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