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)

Mutations in TNK2 in severe autosomal recessive infantile-onset epilepsy

Por Hitomi, Yuki, Heinzen, Erin L., Donatello, Simona, Dahl, Hans-Henrik, Damiano, John A., McMahon, Jacinta M., Berkovic, Samuel F., Scheffer, Ingrid E., Legros, Benjamin, Rai, Myriam, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Pandolfo, Massimo, Goldstein, David B., Van Bogaert, Patrick, Depondt, Chantal
Publicado no Ann Neurol (2013)

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Por Berkovic, Samuel F., Staropoli, John F., Carpenter, Stirling, Oliver, Karen L., Kmoch, Stanislav, Anderson, Glenn W., Damiano, John A., Hildebrand, Michael S., Sims, Katherine B., Cotman, Susan L., Bahlo, Melanie, Smith, Katherine R., Cadieux-Dion, Maxime, Cossette, Patrick, Jedličková, Ivana, Přistoupilová, Anna, Mole, Sara E.
Publicado no Neurology (2016)

Loss of synaptic Zn(2+) transporter function increases risk of febrile seizures

Por Hildebrand, Michael S., Phillips, A. Marie, Mullen, Saul A., Adlard, Paul A., Hardies, Katia, Damiano, John A., Wimmer, Verena, Bellows, Susannah T., McMahon, Jacinta M., Burgess, Rosemary, Hendrickx, Rik, Weckhuysen, Sarah, Suls, Arvid, De Jonghe, Peter, Scheffer, Ingrid E., Petrou, Steven, Berkovic, Samuel F., Reid, Christopher A.
Publicado no Sci Rep (2015)

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Por 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.
Publicado no Am J Hum Genet (2016)

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)