A targeted resequencing gene panel for focal epilepsy

Por 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.
Publicado no Neurology (2016)

Epileptic spasms are a feature of DEPDC5 mTORopathy

Por Carvill, Gemma L., Crompton, Douglas E., Regan, Brigid M., McMahon, Jacinta M., Saykally, Julia, Zemel, Matthew, Schneider, Amy L., Dibbens, Leanne, Howell, Katherine B., Mandelstam, Simone, Leventer, Richard J., Harvey, A. Simon, Mullen, Saul A., Berkovic, Samuel F., Sullivan, Joseph, Scheffer, Ingrid E., Mefford, Heather C.
Publicado no Neurol Genet (2015)

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Por 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
Publicado em 2013

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Por Hildebrand, Michael S, Tankard, Rick, Gazina, Elena V, Damiano, John A, Lawrence, Kate M, Dahl, Hans-Henrik M, Regan, Brigid M, Shearer, Aiden Eliot, Smith, Richard J H, Marini, Carla, Guerrini, Renzo, Labate, Angelo, Gambardella, Antonio, Tinuper, Paolo, Lichetta, Laura, Baldassari, Sara, Bisulli, Francesca, Pippucci, Tommaso, Scheffer, Ingrid E, Reid, Christopher A, Petrou, Steven, Bahlo, Melanie, Berkovic, Samuel F
Publicado no Ann Clin Transl Neurol (2015)