2020 |
Carroll, R., Shaw, M., Arvio, M., Gardner, A., Kumar, R., Hodgson, B., . . . Gecz, J. (2020). Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion. European Journal of Medical Genetics, 63(10), 1-6. DOI |
2016 |
Gardella, E., Beniczky, S., Møller, R. S., Becker, F., Lemke, J. R., Syrbe, S., . . . Weber, Y. G. (2016). Reply. Annals of Neurology, 80(1), 168-169. DOI |
2016 |
Ricos, M., Hodgson, B., Pippucci, T., Saidin, A., Ong, Y., Heron, S., . . . Dibbens, L. (2016). Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Annals of Neurology, 79(1), 120-131. DOI Scopus78 WoS72 Europe PMC44 |
2016 |
Lim, C., Ricos, M., Dibbens, L., & Heron, S. (2016). KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. Journal of Medical Genetics, 53(4), 217-225. DOI Scopus46 WoS37 Europe PMC17 |
2016 |
Afawi, Z., Oliver, K., Kivity, S., Mazarib, A., Blatt, I., Neufeld, M., . . . Berkovic, S. (2016). Multiplex families with epilepsy: success of clinical and molecular genetic characterization. Neurology, 86(8), 713-722. DOI Scopus14 WoS13 Europe PMC8 |
2016 |
Gardella, E., Becker, F., Møller, R., Schubert, J., Lemke, J., Larsen, L., . . . Weber, Y. (2016). Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Annals of Neurology, 79(3), 428-436. DOI Scopus84 WoS79 Europe PMC38 |
2016 |
Gardella, E., Beniczky, S., Møller, R., Becker, F., Lemke, J., Syrbe, S., . . . Weber, Y. (2016). Reply. Annals of Neurology, 80(1), 168-169. DOI |
2016 |
Smith, N., Lipsett, J., Dibbens, L., & Heron, S. (2016). BRAT1-associated neurodegeneration: intra-familial phenotypic differences in siblings. American Journal of Medical Genetics, Part A, 170(11), 3033-3038. DOI Scopus7 WoS6 Europe PMC3 |
2015 |
Muona, M., Berkovic, S., Dibbens, L., Oliver, K., Maljevic, S., Bayly, M., . . . Lehesjoki, A. (2015). A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nature Genetics, 47(1), 39-46. DOI Scopus133 WoS131 Europe PMC91 |
2015 |
Yamamoto, T., Shimojima, K., Sangu, N., Komoike, Y., Ishii, A., Abe, S., . . . 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), e0118946-1-e0118946-11. DOI Scopus6 WoS4 Europe PMC5 |
2015 |
Grinton, B., Heron, S., Pelekanos, J., Zuberi, S., Kivity, S., Afawi, Z., . . . Berkovic, S. (2015). Familial neonatal seizures in 36 families: clinical and genetic features correlate with outcome. Epilepsia, 56(7), 1071-1080. DOI Scopus50 WoS43 Europe PMC28 |
2015 |
Møller, R., Heron, S., Larsen, L., Lim, C., Ricos, M., Bayly, M., . . . Dibbens, L. (2015). Mutations in KCNT1 cause a spectrum of focal epilepsies. Epilepsia, 56(9), e114-e120. DOI Scopus61 WoS56 Europe PMC35 |
2014 |
Milligan, C., Li, M., Gazina, E., Heron, S., Nair, U., Trager, C., . . . Petrou, S. (2014). KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Annals of Neurology, 75(4), 581-590. DOI Scopus135 WoS130 Europe PMC84 |
2014 |
Vadlamudi, L., Milne, R., Lawrence, K., Heron, S., Eckhaus, J., Keay, D., . . . Berkovic, S. (2014). Genetics of epilepsy: the testimony of twins in the molecular era. Neurology, 83(12), 1042-1048. DOI Scopus36 WoS32 Europe PMC20 |
2014 |
Puskarjov, M., Seja, P., Heron, S., Williams, T., Ahmad, F., Iona, X., . . . Kaila, K. (2014). A variant of KCC2 from patients with febrile seizures impairs neuronal Cl ‾ extrusion and dendritic spine formation. EMBO Reports, 15(6), 723-729. DOI Scopus90 WoS90 Europe PMC63 |
2014 |
Scheffer, I., Heron, S., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Dibbens, L. (2014). Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Annals of Neurology, 75(5), 782-787. DOI Scopus131 WoS127 Europe PMC82 |
2013 |
Heron, S., Ong, Y., Yendle, S., McMahon, J., Berkovic, S., Scheffer, I., & Dibbens, L. (2013). Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies. Epilepsia, 54(5), e86-e89. DOI Scopus10 WoS7 Europe PMC8 |
2013 |
Heron, S., & Dibbens, L. (2013). Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. Journal of Medical Genetics, 50(3), 133-139. DOI Scopus60 WoS51 Europe PMC36 |
2013 |
Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nature Genetics, 45(5), 546-551. DOI Scopus192 WoS177 Europe PMC125 |
2013 |
Klein, K., Bromhead, C., Smith, K., O'Callaghan, C., Corcoran, S., Heron, S., . . . Berkovic, S. (2013). Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26. Neurology, 80(16), 1485-1493. DOI Scopus12 WoS11 Europe PMC7 |
2012 |
Heron, S., Smith, K., Bahlo, M., Nobili, L., Kahana, E., Licchetta, L., . . . Dibbens, L. (2012). Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics, 44(11), 1188-1190. DOI Scopus206 WoS197 Europe PMC144 |
2012 |
Klein, K., O'Brien, T., Praveen, K., Heron, S., Mulley, J., Foote, S., . . . Scheffer, I. (2012). Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum. Epilepsia, 53(8), 151-155. DOI Scopus18 WoS17 Europe PMC8 |
2012 |
Scheffer, I., Grinton, B., Heron, S., Kivity, S., Afawi, Z., Iona, X., . . . Dibbens, L. (2012). PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology, 79(21), 2104-2108. DOI Scopus59 WoS53 Europe PMC35 |
2012 |
Afawi, Z., Bassan, H., Heron, S., Oliver, K., Straussberg, R., Scheffer, I., . . . Berkovic, S. (2012). Benign neonatal sleep myoclonus: an autosomal dominant form not allelic to KCNQ2 or KCNQ3. Journal of Child Neurology, 27(10), 1260-1263. DOI Scopus4 WoS4 Europe PMC2 |
2012 |
Heron, S., Grinton, B., Kivity, S., Afawi, Z., Zuberi, S., Hughes, J., . . . Dibbens, L. (2012). PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), 152-160. DOI Scopus176 WoS158 Europe PMC111 |
2012 |
Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L., . . . De Jonghe, P. (2012). KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy. Annals of Neurology, 71(1), 15-25. DOI Scopus276 WoS255 Europe PMC180 |
2011 |
Dibbens, L., Kneen, R., Bayly, M., Heron, S., Arsov, T., Damiano, J., . . . Scheffer, I. (2011). Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Neurology, 76(17), 1514-1519. DOI Scopus36 WoS36 Europe PMC23 |
2011 |
Mulley, J., Iona, X., Hodgson, B., Heron, S., Berkovic, S., Scheffer, I., & Dibbens, L. (2011). The role of seizure-related SEZ6 as a susceptibility gene in febrile seizures. Neurology Research International, 2011, 1-4. DOI Scopus8 Europe PMC9 |
2011 |
Mulley, J., Heron, S., Wallace, R., Gecz, J., & Dibbens, L. (2011). "Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!. Epilepsia, 52(9), 1757-1758. DOI Scopus2 WoS1 |
2011 |
Mulley, J., Heron, S., & Dibbens, L. (2011). Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies. Epilepsia, 52(3), 649-650. DOI Scopus8 WoS7 Europe PMC6 |
2010 |
Heron, S., Scheffer, I., Grinton, B., Eyre, H., Oliver, K., Bain, S., . . . Mulley, J. (2010). Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3. Epilepsia, 51(9), 1865-1869. DOI Scopus23 WoS23 Europe PMC17 |
2010 |
Heron, S., Scheffer, I., Iona, X., Zuberi, S., Birch, R., McMahon, J., . . . Mulley, J. (2010). De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Journal of Medical Genetics, 47(2), 137-141. DOI Scopus32 WoS29 Europe PMC20 |
2010 |
Heron, S., Hernandez, M., Edwards, C., Edkins, E., Jansen, F., Scheffer, I., . . . Mulley, J. (2010). Neonatal seizures and Long QT Syndrome: A cardiocerebral channelopathy?. Epilepsia, 51(2), 293-296. DOI Scopus49 WoS48 Europe PMC31 |
2009 |
Goldberg-Stern, H., Kaufmann, R., Kivity, S., Afawi, Z., & Heron, S. (2009). Novel mutation in KCNQ2 causing benign familial neonatal seizures. Pediatric Neurology, 41(5), 367-370. DOI Scopus8 WoS6 Europe PMC4 |
2008 |
Derry, C., Heron, S., Phillips, F., Howell, S., MacMahon, J., Phillips, H., . . . Scheffer, I. (2008). Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia, 49(12), 2125-2129. DOI Scopus33 WoS28 Europe PMC17 |
2007 |
Heron, S., Khosravani, H., Varela, D., Bladen, C., Williams, T., Newman, M., . . . Zamponi, G. (2007). Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Annals of Neurology, 62(6), 560-568. DOI Scopus138 WoS122 Europe PMC92 |
2007 |
Heron, S., Cox, K., Grinton, B., Zuberi, S., Kivity, S., Afawi, Z., . . . Mulley, J. (2007). Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. Journal of Medical Genetics, 44(12), 791-796. DOI Scopus55 WoS53 Europe PMC36 |
2007 |
Heron, S., Scheffer, I., Berkovic, S., Dibbens, L., & Mulley, J. (2007). Channelopathies in idiopathic epilepsy. Neurotherapeutics, 4(2), 295-304. DOI Scopus83 WoS77 Europe PMC62 |
2007 |
Xu, R., Thomas, E., Gazina, E., Richards, K., Quick, M., Wallace, R., . . . Petrou, S. (2007). eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. Neuroscience, 148(1), 164-174. DOI Scopus53 WoS49 Europe PMC39 |
2007 |
Herlenius, E., Heron, S., Grinton, B., Keay, D., Scheffer, I., Mulley, J., & Berkovic, S. (2007). SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum. Epilepsia, 48(6), 1138-1142. DOI Scopus85 WoS81 Europe PMC55 |
2007 |
Xu, R., Thomas, E., Jenkins, M., Gazina, E., Chiu, C., Heron, S., . . . Petrou, S. (2007). A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Molecular and Cellular Neuroscience, 35(2), 292-301. DOI Scopus54 WoS51 Europe PMC43 |
2007 |
Heron, S., Sanchez, L., Scheffer, I., Berkovic, S., & Mulley, J. (2007). Association studies and functional validation or functional validation alone?. Epilepsy Research, 74(2-3), 237-238. DOI Scopus4 WoS4 Europe PMC3 |
2007 |
Dibbens, L., Heron, S., & Mulley, J. (2007). A polygenic heterogeneity model for common epilepsies with complex genetics. Genes, Brain and Behavior, 6(7), 593-597. DOI Scopus48 WoS39 Europe PMC31 |
2005 |
Tan, N., Heron, S., Scheffer, I., Berkovic, S., & Mulley, J. (2005). Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?. Epilepsia, 46(5), 778-780. DOI Scopus13 WoS10 Europe PMC10 |
2004 |
Tan, N., Heron, S., Scheffer, I., Pelekanos, J., McMahon, J., Vears, D., . . . Berkovic, S. (2004). Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy. Neurology, 63(6), 1090-1092. DOI Scopus177 WoS153 Europe PMC123 |
2004 |
Berkovic, S., Heron, S., Giordano, L., Marini, C., Guerrini, R., Kaplan, R., . . . Scheffer, I. (2004). Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy. Annals of Neurology, 55(4), 550-557. DOI Scopus213 WoS184 Europe PMC130 |
2004 |
Richards, M., Heron, S., Spendlove, H., Scheffer, I., Grinton, B., Berkovic, S., . . . Davy, A. (2004). Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. Journal of Medical Genetics, 41(3), WWW 1-WWW 6. DOI Scopus54 WoS52 Europe PMC32 |
2004 |
Heron, S., Phillips, H., Mulley, J., Mazarib, A., Neufeld, M., Berkovic, S., & Scheffer, I. (2004). Genetic Variation of CACNA1H in Idiopathic Generalized Epilepsy [1]. Annals of Neurology, 55(4), 595-596. DOI Scopus94 WoS77 Europe PMC61 |
2004 |
Bonanni, P., Malcarne, M., Moro, F., Veggiotti, P., Buti, D., Ferrari, A., . . . Guerrini, R. (2004). Generalized Epilepsy with Febrile Seizures Plus (GEFS<sup>+</sup>): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations. Epilepsia, 45(2), 149-158. DOI Scopus51 WoS45 Europe PMC30 |
2004 |
Mulley, J., Heron, S., Scheffer, I., Berkovic, S., Chou, I., Tsai, C., & Tsai, F. (2004). Febrile Convulsions and Genetic Susceptibility: Role of the Neuronal Nicotinic Acetylcholine Receptor α4 Subunit [1] (multiple letters). Epilepsia, 45(5), 561. DOI Scopus10 WoS10 Europe PMC7 |
2002 |
Heron, S. (2002). Erratum: Sodium-channel defects in benign familial neonatal-infantile seizures (Lancet (Sept 14) (851)). Lancet, 360(9344), 1520. Scopus4 |
2002 |
Heron, S., Crossland, K., Andermann, E., Phillips, H., Hall, A., Bleasel, A., . . . Scheffer, I. (2002). Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet, 360(9336), 851-852. DOI Scopus279 WoS243 Europe PMC172 |
2001 |
Phillips, H., Favre, I., Kirkpatrick, M., Zuberi, S., Goudie, D., Heron, S., . . . Mulley, J. (2001). CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. American Journal of Human Genetics, 68(1), 225-231. DOI Scopus255 WoS213 Europe PMC151 |
1997 |
Paton, B., Heron, S., Nelson, P., Morris, C., & Poulos, A. (1997). Absence of mutations raises doubts about the role of the 70-kD peroxisomal membrane protein in Zellweger syndrome [2]. American Journal of Human Genetics, 60(6), 1535-1539. DOI Scopus11 WoS10 Europe PMC4 |