未登录 Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy Spinelli, Egidio; Christensen, Kyle R.; Bryant, Emily; Schneider, Amy; Rakotomamonjy, Jennifer; Muir, Alison M.; Giannelli, Jessica; Littlejohn, Rebecca O.; Roeder, Elizabeth R.; Schmidt, Berkley; Wilson, William G.; Marco, Elysa J.; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H.; Jaarsveld, Richard H.; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick W.; Andrews, P. Ian; El Achkar, Christelle M.; Berkovic, Sam; Rodan, Lance H.; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Mandelstam, Simone; Laux, Linda; Millichap, John J.; Guemez-Gamboa, Alicia; Nairn, Angus C.; Carvill, Gemma L. 分享 收藏
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Li, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffault, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M. M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M. J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K. L., I; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang-Jiao 分享 收藏
Genetic epilepsy with febrile seizures plus Refining the spectrum 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. 分享 收藏
Multiplex families with epilepsy Success of clinical and molecular genetic characterization Afawi, Zaid; Oliver, Karen L.; Kivity, Sara; Mazarib, Aziz; Blatt, Ilan; Neufeld, Miriam Y.; Helbig, Katherine L.; Goldberg-Stern, Hadassa; Misk, Adel J.; Straussberg, Rachel; Walid, Simri; Mahajnah, Muhammad; Lerman-Sagie, Tally; Ben-Zeev, Bruria; Kahana, Esther; Masalha, Rafik; Kramer, Uri; Ekstein, Dana; Shorer, Zamir; Wallace, Robyn H.; Mangelsdorf, Marie; MacPherson, James N.; Carvill, Gemma L.; Mefford, Heather C.; Jackson, Graeme D.; Scheffer, Ingrid E.; Bahlo, Melanie; Gecz, Jozef; Heron, Sarah E.; Corbett, Mark; Mulley, John C.; Dibbens, Leanne M.; Korczyn, Amos D.; Berkovic, Samuel F. 分享 收藏
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing Saitsu, Hirotomo; Akita, Tenpei; Tohyama, Jun; Goldberg-Stern, Hadassa; Kobayashi, Yu; Cohen, Roni; Kato, Mitsuhiro; Ohba, Chihiro; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Miyake, Noriko; Fukuda, Atsuo; Matsumoto, Naomichi 分享 收藏
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome Grinton, Bronwyn E.; Heron, Sarah E.; Pelekanos, James T.; Zuberi, Sameer M.; Kivity, Sara; Afawi, Zaid; Williams, Tristiana C.; Casalaz, Dan M.; Yendle, Simone; Linder, Ilan; Lev, Dorit; Lerman-Sagie, Tally; Malone, Stephen; Bassan, Haim; Goldberg-Stern, Hadassa; Stanley, Thorsten; Hayman, Michael; Calvert, Sophie; Korczyn, Amos D.; Shevell, Michael; Scheffer, Ingrid E.; Mulley, John C.; Berkovic, Samuel F. 分享 收藏
Thiamine Deficiency in Infancy: Long-Term Follow-Up Mimouni-Bloch, Aviva; Goldberg-Stern, Hadassa; Strausberg, Rachel; Brezner, Amichai; Heyman, Eli; Inbar, Day; Kivity, Sara; Zvulunov, Alex; Sztarkier, Ignacio; Fogelman, Rami; Fattal-Valevski, Aviva 分享 收藏
Early onset epileptic encephalopathy caused by de novo SCN8A mutations 从头SCN8A突变引起的早发性癫痫脑病 Ohba, Chihiro; Kato, Mitsuhiro; Takahashi, Satoru; Lerman-Sagie, Tally; Lev, Dorit; Terashima, Hiroshi; Kubota, Masaya; Kawawaki, Hisashi; Matsufuji, Mayumi; Kojima, Yasuko; Tateno, Akihiko; Goldberg-Stern, Hadassa; Straussberg, Rachel; Marom, Dafna; Leshinsky-Silver, Esther; Nakashima, Mitsuko; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Matsumoto, Naomichi; Saitsu, Hirotomo 分享 收藏
分享 收藏
分享 收藏
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies 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. 分享 收藏
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures Scheffer, Ingrid E.; Grinton, Bronwyn E.; Heron, Sarah E.; Kivity, Sara; Afawi, Zaid; Iona, Xenia; Goldberg-Stern, Hadassa; Kinali, Maria; Andrews, Ian; Guerrini, Renzo; Marini, Carla; Sadleir, Lynette G.; Berkovic, Samuel F.; Dibbens, Leanne M. 分享 收藏
分享 收藏
分享 收藏
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome Heron, Sarah E.; Grinton, Bronwyn E.; Kivity, Sara; Afawi, Zaid; Zuberi, Sameer M.; Hughes, James N.; Pridmore, Clair; Hodgson, Bree L.; Iona, Xenia; Sadleir, Lynette G.; Pelekanos, James; Herlenius, Eric; Goldberg-Stern, Hadassa; Bassan, Haim; Haan, Eric; Korczyn, Amos D.; Gardner, Alison E.; Corbett, Mark A.; Gecz, Jozef; Thomas, Paul Q.; Mulley, John C.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Dibbens, Leanne M. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
