المؤلفون: Heron, SE, Grinton, BE, Kivity, S, Afawi, Z, Zuberi, SM, Hughes, JN, Pridmore, C, Hodgson, BL, Iona, X, Sadleir, LG, Pelekanos, J, Herlenius, E, Goldberg-Stern, H, Bassan, H, Haan, E, Korczyn, AD, Gardner, AE, Corbett, MA, Gecz, J, Thomas, PQ, Mulley, JC, Berkovic, SF, Scheffer, IE, Dibbens, LM

المصدر: American journal of human genetics. 90(1):152-160

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.kiTest.se/Default.aspx?queryparsed=id:123927627

المؤلفون: Herlenius, E, Heron, SE, Grinton, BE, Keay, D, Scheffer, IE, Mulley, JC, Berkovic, SF

المصدر: Epilepsia. 48(6):1138-1142

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.kiTest.se/Default.aspx?queryparsed=id:115530538

المؤلفون: Yamamoto, T, Shimojima, K, Sangu, N, Komoike, Y, Ishii, A, Abe, S, Yamashita, S, Imai, K, Kubota, T, Fukasawa, T, Okanishi, T, Enoki, H, Tanabe, T, Saito, A, Furukawa, T, Shimizu, T, Milligan, CJ, Petrou, S, Heron, SE, Dibbens, LM, Hirose, S, Okumura, A

المساهمون: Ishii, R

العلاقة: pii: PONE-D-14-05220; Yamamoto, T., Shimojima, K., Sangu, N., Komoike, Y., Ishii, A., Abe, S., Yamashita, S., Imai, K., Kubota, T., Fukasawa, T., Okanishi, T., Enoki, H., Tanabe, T., Saito, A., Furukawa, T., Shimizu, T., Milligan, C. J., Petrou, S., Heron, S. E. ,. Okumura, A. (2015). Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures. PLOS ONE, 10 (3), https://doi.org/10.1371/journal.pone.0118946Test.; http://hdl.handle.net/11343/261248Test

الإتاحة: https://doi.org/10.1371/journal.pone.0118946Test
http://hdl.handle.net/11343/261248Test

المؤلفون: Pham, DH, Pitman, MR, Kumar, R, Jolly, LA, Schulz, R, Gardner, AE, de Nys, R, Heron, SE, Corbett, MA, Kothur, K, Gill, D, Rajagopalan, S, Kolc, KL, Halliday, BJ, Robertson, SP, Regan, BM, Kirsch, HE, Berkovic, SF, Scheffer, IE, Pitson, SM, Petrovski, S, Gecz, J

العلاقة: NHMRC/1091593; Pham, D. H., Pitman, M. R., Kumar, R., Jolly, L. A., Schulz, R., Gardner, A. E., de Nys, R., Heron, S. E., Corbett, M. A., Kothur, K., Gill, D., Rajagopalan, S., Kolc, K. L., Halliday, B. J., Robertson, S. P., Regan, B. M., Kirsch, H. E., Berkovic, S. F., Scheffer, I. E. ,. Gecz, J. (2021). Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. HUMAN MUTATION, 42 (8), pp.1030-1041. https://doi.org/10.1002/humu.24237Test.; http://hdl.handle.net/11343/298643Test

الإتاحة: https://doi.org/10.1002/humu.24237Test
http://hdl.handle.net/11343/298643Test

المؤلفون: Puskarjov, M, Seja, P, Heron, SE, Williams, TC, Ahmad, F, Iona, X, Oliver, KL, Grinton, BE, Vutskits, L, Scheffer, IE, Petrou, S, Blaesse, P, Dibbens, LM, Berkovic, SF, Kaila, K

العلاقة: NHMRC/628952; pii: embr.201438749; Puskarjov, M., Seja, P., Heron, S. E., Williams, T. C., Ahmad, F., Iona, X., Oliver, K. L., Grinton, B. E., Vutskits, L., Scheffer, I. E., Petrou, S., Blaesse, P., Dibbens, L. M., Berkovic, S. F. & Kaila, K. (2014). A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation. EMBO REPORTS, 15 (6), pp.723-729. https://doi.org/10.1002/embr.201438749Test.; http://hdl.handle.net/11343/217293Test

الإتاحة: https://doi.org/10.1002/embr.201438749Test
http://hdl.handle.net/11343/217293Test

المؤلفون: Mulley, JC, Iona, X, Hodgson, B, Heron, SE, Berkovic, SF, Scheffer, IE, Dibbens, LM

العلاقة: Mulley, J. C., Iona, X., Hodgson, B., Heron, S. E., Berkovic, S. F., Scheffer, I. E. & Dibbens, L. M. (2011). The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures. NEUROLOGY RESEARCH INTERNATIONAL, 2011, https://doi.org/10.1155/2011/917565Test.; http://hdl.handle.net/11343/265574Test

الإتاحة: https://doi.org/10.1155/2011/917565Test
http://hdl.handle.net/11343/265574Test

المؤلفون: Afawi, Z, Oliver, KL, Kivity, S, Mazarib, A, Blatt, I, Neufeld, MY, Helbig, KL, Goldberg-Stern, H, Misk, AJ, Straussberg, R, Walid, S, Mahajnah, M, Lerman-Sagie, T, Ben-Zeev, B, Kahana, E, Masalha, R, Kramer, U, Ekstein, D, Shorer, Z, Wallace, RH, Mangelsdorf, M, MacPherson, JN, Carvill, GL, Mefford, HC, Jackson, GD, Scheffer, IE, Bahlo, M, Gecz, J, Heron, SE, Corbett, M, Mulley, JC, Dibbens, LM, Korczyn, AD, Berkovic, SF

العلاقة: NHMRC/628952; pii: WNL.0000000000002404; Afawi, Z., Oliver, K. L., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M. Y., Helbig, K. L., Goldberg-Stern, H., Misk, A. J., Straussberg, R., Walid, S., Mahajnah, M., Lerman-Sagie, T., Ben-Zeev, B., Kahana, E., Masalha, R., Kramer, U., Ekstein, D., Shorer, Z. ,. Berkovic, S. F. (2016). Multiplex families with epilepsy Success of clinical and molecular genetic characterization. NEUROLOGY, 86 (8), pp.713-722. https://doi.org/10.1212/WNL.0000000000002404Test.; http://hdl.handle.net/11343/148419Test

الإتاحة: https://doi.org/10.1212/WNL.0000000000002404Test
http://hdl.handle.net/11343/148419Test

المؤلفون: Grinton, BE, Heron, SE, Pelekanos, JT, Zuberi, SM, Kivity, S, Afawi, Z, Williams, TC, Casalaz, DM, Yendle, S, Linder, I, Lev, D, Lerman-Sagie, T, Malone, S, Bassan, H, Goldberg-Stern, H, Stanley, T, Hayman, M, Calvert, S, Korczyn, AD, Shevell, M, Scheffer, IE, Mulley, JC, Berkovic, SF

العلاقة: NHMRC/628952; NHMRC/466671; NHMRC/1006110; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000357728400014&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest; Grinton, B. E., Heron, S. E., Pelekanos, J. T., Zuberi, S. M., Kivity, S., Afawi, Z., Williams, T. C., Casalaz, D. M., Yendle, S., Linder, I., Lev, D., Lerman-Sagie, T., Malone, S., Bassan, H., Goldberg-Stern, H., Stanley, T., Hayman, M., Calvert, S., Korczyn, A. D. ,. Berkovic, S. F. (2015). Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. EPILEPSIA, 56 (7), pp.1071-1080. https://doi.org/10.1111/epi.13020Test.; http://hdl.handle.net/11343/190476Test

الإتاحة: https://doi.org/10.1111/epi.13020Test
http://hdl.handle.net/11343/190476Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000357728400014&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest

المؤلفون: Scheffer, IE, Heron, SE, Regan, BM, Mandelstam, S, Crompton, DE, Hodgson, BL, Licchetta, L, Provini, F, Bisulli, F, Vadlamudi, L, Gecz, J, Connelly, A, Tinuper, P, Ricos, MG, Berkovic, SF, Dibbens, LM

مصطلحات موضوعية: VARIABLE FOCI, CLASSIFICATION, HAMARTOMAS, LESIONS, COMPLEX, BOTTOM, SULCUS

العلاقة: NHMRC/628952; NHMRC/1006110; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000337706100018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest; Scheffer, I. E., Heron, S. E., Regan, B. M., Mandelstam, S., Crompton, D. E., Hodgson, B. L., Licchetta, L., Provini, F., Bisulli, F., Vadlamudi, L., Gecz, J., Connelly, A., Tinuper, P., Ricos, M. G., Berkovic, S. F. & Dibbens, L. M. (2014). Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations. ANNALS OF NEUROLOGY, 75 (5), pp.782-787. https://doi.org/10.1002/ana.24126Test.; http://hdl.handle.net/11343/43884Test

الإتاحة: https://doi.org/10.1002/ana.24126Test
http://hdl.handle.net/11343/43884Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000337706100018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest

المؤلفون: Milligan, CJ, Li, M, Gazina, EV, Heron, SE, Nair, U, Trager, C, Reid, CA, Venkat, A, Younkin, DP, Dlugos, DJ, Petrovski, S, Goldstein, DB, Dibbens, LM, Scheffer, IE, Berkovic, SF, Petrou, S

العلاقة: NHMRC/1005050; NHMRC/466671; NHMRC/628952; NHMRC/1006110; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000335234200013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest; Milligan, C. J., Li, M., Gazina, E. V., Heron, S. E., Nair, U., Trager, C., Reid, C. A., Venkat, A., Younkin, D. P., Dlugos, D. J., Petrovski, S., Goldstein, D. B., Dibbens, L. M., Scheffer, I. E., Berkovic, S. F. & Petrou, S. (2014). KCNT1 Gain of Function in 2 Epilepsy Phenotypes is Reversed by Quinidine. ANNALS OF NEUROLOGY, 75 (4), pp.581-590. https://doi.org/10.1002/ana.24128Test.; http://hdl.handle.net/11343/43882Test

الإتاحة: https://doi.org/10.1002/ana.24128Test
http://hdl.handle.net/11343/43882Test
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000335234200013&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=d4d813f4571fa7d6246bdc0dfeca3a1cTest