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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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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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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A polygenic heterogeneity model for common epilepsies with complex genetics von Dibbens, L. M., Heron, S. E., 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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Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function von Xu, R, Thomas, E.A, Gazina, E.V, Richards, K.L, Quick, M, Wallace, R.H, Harkin, L.A, Heron, S.E, Berkovic, S.F, Scheffer, I.E, Mulley, J.C, Petrou, S

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CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy von Phillips, Hilary A., Favre, Isabelle, Kirkpatrick, Martin, Zuberi, Sameer M., Goudie, David, Heron, Sarah E., Scheffer, Ingrid E., Sutherland, Grant R., Berkovic, Samuel F., Bertrand, Daniel, Mulley, John C.

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Generalized epilepsy with febrile seizures plus-associated sodium channel beta 1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function von Xu, R, Thomas, E A, Gazina, E V, Richards, K L, Quick, M, Wallace, R H, Harkin, LA, Heron, SE, Berkovic, S F, Scheffer, I E, Mulley, J C, Petrou, S

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Absence of Mutations Raises Doubts about the Role of the 70-kD Peroxisomal Membrane Protein in Zellweger Syndrome von PATON, BARBARA C., HERON, SARAH E., NELSON, PAUL V., MORRIS, C. PHILLIP, POULOS, ALFRED

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De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin von Heron, Sarah E, Scheffer, Ingrid E, Iona, Xenia, Zuberi, Sameer M, Birch, Rachael, McMahon, Jacinta M, Bruce, Carla M, Berkovic, Samuel F, Mulley, John C

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures von SCHEFFER, Ingrid E, GRINTON, Bronwyn E, MARINI, Carla, SADLEIR, Lynette G, BERKOVIC, Samuel F, DIBBENS, Leanne M, HERON, Sarah E, KIVITY, Sara, AFAWI, Zaid, IONA, Xenia, GOLDBERG-STERN, Hadassa, KINALI, Maria, ANDREWS, Ian, GUERRINI, Renzo

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Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy von Berkovic, Samuel F., Heron, Sarah E., Giordano, Lucio, Marini, Carla, Guerrini, Renzo, Kaplan, Robert E., Gambardella, Antonio, Steinlein, Ortrud K., Grinton, Bronwyn E., Dean, Joanne T., Bordo, Laura, Hodgson, Bree L., Yamamoto, Toshiyuki, Mulley, John C., Zara, Federico, Scheffer, Ingrid E.

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SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum von Herlenius, Eric, Heron, Sarah E., Grinton, Bronwyn E., Keay, Deborah, Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

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Sodium-channel defects in benign familial neonatal-infantile seizures von Heron, Sarah E, Crossland, Kathryn M, Andermann, Eva, Phillips, Hilary A, Hall, Allison J, Bleasel, Andrew, Shevell, Michael, Mercho, Suha, Seni, Marie-Helene, Guiot, Marie-Christine, Mulley, John C, Berkovic, Samuel F, Scheffer, Ingrid E

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Genetic variation of CACNA1H in idiopathic generalized epilepsy von Heron, Sarah E., Phillips, Hilary A., Mulley, John C., Mazarib, Aziz, Neufeld, Miriam Y., Berkovic, Samuel F., Scheffer, Ingrid E.

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A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel von Xu, Ruwei, Thomas, Evan A., Jenkins, Misty, Gazina, Elena V., Chiu, Cindy, Heron, Sarah E., Mulley, John C., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

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Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations von Bonanni, Paolo, Malcarne, Michela, Moro, Francesca, Veggiotti, Pierangelo, Buti, Daniela, Ferrari, Anna Rita, Parrini, Elena, Mei, Davide, Volzone, Anna, Zara, Federico, Heron, Sarah E., Bordo, Laura, Marini, Carla, Guerrini, Renzo

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Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function von Xu, R, Thomas, E A, Gazina, E V, Richards, K L, Quick, M, Wallace, R H, Harkin, L A, Heron, S E, Berkovic, S F, Scheffer, I E, Mulley, J C, Petrou, S

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Is Variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy? von Tan, Nigel C.K., Heron, Sarah E., Scheffer, Ingrid E., Berkovic, Samuel F., Mulley, John C.

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Novel Mutation in KCNQ2 Causing Benign Familial Neonatal Seizures von Goldberg-Stern, Hadassa, MD, Kaufmann, Rafi, MD, Kivity, Sara, MD, Afawi, Zaid, MD, Heron, Sara E., BS

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