Severe myoclonic epilepsy of infancy (Dravet syndrome) : Recognition and diagnosis in adults von JANSEN, F. E, SADLEIR, L. G, HARKIN, L. A, VADLAMUDI, L, MCMAHON, J. M, MULLEY, J. C, SCHEFFER, I. E, BERKOVIC, S. F

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Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy von TAN, N. C. K, HERON, S. E, SCHEFFER, I. E, PELEKANOS, J. T, MCMAHON, J. M, VEARS, D. F, MULLEY, J. C, BERKOVIC, S. F

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Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations von DIBBENS, L. M, KNEEN, R, RONAN, A, SCHEFFER, I. E, BAYLY, M. A, HERON, S. E, ARSOV, T, DAMIANO, J. A, DESAI, T, GIBBS, J, MCKENZIE, F, MULLEY, J. C

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A new molecular mechanism for severe myoclonic epilepsy of infancy : Exonic deletions in SCN1A von MULLEY, J. C, NELSON, P, SCHEFFER, I. E, GUERRERO, S, DIBBENS, L, IONA, X, MCMAHON, J. M, HARKIN, L, SCHOUTEN, J, YU, S, BERKOVIC, S. F

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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures von Heron, S E, Cox, K, Grinton, B E, Zuberi, S M, Kivity, S, Afawi, Z, Straussberg, R, Berkovic, S F, Scheffer, I E, Mulley, J C

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Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms von WALLACE, R. H, HODGSON, B. L, YAMAMOTO, T, ANDERMANN, E, MULLEY, J. C, BERKOVIC, S. F, SCHEFFER, I. E, GRINTON, B. E, GARDINER, R. M, ROBINSON, R, RODRIGUEZ-CASERO, V, SADLEIR, L, MORGAN, J, HARKIN, L. A, DIBBENS, L. M

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Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B von WALLACE, R. H, SCHEFFER, I. E, PARASIVAM, G, BARNETT, S, WALLACE, G. B, SUTHERLAND, G. R, BERKOVIC, S. F, MULLEY, J. C

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome von MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J

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LGI1 mutations in temporal lobe epilepsies von BERKOVIC, S. F, IZZILLO, P, KORCZYN, A. D, SCHEFFER, I. E, MULLEY, J. C, MCMAHON, J. M, HARKIN, L. A, MCINTOSH, A. M, PHILLIPS, H. A, BRIELLMANN, R. S, WALLACE, R. H, MAZARIB, A, NEUFELD, M. Y

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Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2 von Sutherland, G.R, Phillips, H.A, Mulley, J.C, Scheffer, I.E, Hollway, G.E, Berkovic, S.F

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De novo SCN1A mutations in migrating partial seizures of infancy von Carranza Rojo, D, Hamiwka, L, McMahon, J M, Dibbens, L M, Arsov, T, Suls, A, Stödberg, T, Kelley, K, Wirrell, E, Appleton, B, Mackay, M, Freeman, J L, Yendle, S C, Berkovic, S F, Bienvenu, T, De Jonghe, P, Thorburn, D R, Mulley, J C, Mefford, H C, Scheffer, I E

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Fragile X Genotype Characterized by an Unstable Region of DNA von Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J. C., Warren, S. T., Schlessinger, D., Sutherland, G. R., Richards, R. I.

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X-linked myoclonic epilepsy with spasticity and intellectual disability: Mutation in the homeobox gene ARX von SCHEFFER, I. E, WALLACE, R. H, PHILLIPS, F. L, HEWSON, P, REARDON, K, PARASIVAM, G, STROMME, P, BERKOVIC, S. F, GECZ, J, MULLEY, J. C

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Identification of the gene ( SEDL ) causing X-linked spondyloepiphyseal dysplasia tarda von Gécz, Jozef, Colley, Alison, Tiller, George E, Rogers, John, Gedeon, Ági K, Jamieson, Robyn, Sillence, David, Thompson, Elizabeth M, Mulley, John C

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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda von Gedeon, A.K., Tiller, G.E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I.A., Savarirayan, R., Cole, W.G., Rimoin, D.L., Kousseff, B.G., Ohashi, H., Zabel, B., Munnich, A., Gecz, J., Mulley, J.C.

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Identification of the gene FMR2 , associated with FRAXE mental retardation von Gecz, Jozef, Gedeon, Agi K, Sutherland, Grant R, Mulley, John C

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Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24 von Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J.L., Stephenson, J.B.P., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., Mulley, J.C.

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Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction von Richards, M C, Heron, S E, Spendlove, H E, Scheffer, I E, Grinton, B, Berkovic, S F, Mulley, J C, Davy, A

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Incidence and origin of null alleles in the (AC)n microsatellite markers von CALLEN, D. F, THOMPSON, A. D, YANG SHEN, PHILLIPS, H. A, RICHARDS, R. I, MULLEY, J. C, SUTHERLAND, G. R

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A de novo mutation in sporadic nocturnal frontal lobe epilepsy von Phillips, H. A., Marini, C., Scheffer, I. E., Sutherland, G. R., Mulley, J. C., Berkovic, S. F.

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