Sarah Heron
Sarah Heron
Verified email at adelaide.edu.au
TitleCited byYear
Sodium-channel defects in benign familial neonatal-infantile seizures
SE Heron, KM Crossland, E Andermann, HA Phillips, AJ Hall, A Bleasel, ...
The Lancet 360 (9336), 851-852, 2002
3492002
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
HA Phillips, I Favre, M Kirkpatrick, SM Zuberi, D Goudie, SE Heron, ...
The American Journal of Human Genetics 68 (1), 225-231, 2001
3252001
KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy
S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ...
Annals of neurology 71 (1), 15-25, 2012
3022012
Benign familial neonatal‐infantile seizures: characterization of a new sodium channelopathy
SF Berkovic, SE Heron, L Giordano, C Marini, R Guerrini, RE Kaplan, ...
Annals of neurology 55 (4), 550-557, 2004
2882004
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
SE Heron, KR Smith, M Bahlo, L Nobili, E Kahana, L Licchetta, KL Oliver, ...
Nature genetics 44 (11), 1188, 2012
2322012
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
NCK Tan, SE Heron, IE Scheffer, JT Pelekanos, JM McMahon, DF Vears, ...
Neurology 63 (6), 1090-1092, 2004
2172004
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
2072012
Mutations in DEPDC5 cause familial focal epilepsy with variable foci
LM Dibbens, B De Vries, S Donatello, SE Heron, BL Hodgson, ...
Nature genetics 45 (5), 546-551, 2013
2002013
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
SE Heron, H Khosravani, D Varela, C Bladen, TC Williams, MR Newman, ...
Annals of Neurology: Official Journal of the American Neurologicalá…, 2007
1602007
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
IE Scheffer, SE Heron, BM Regan, S Mandelstam, DE Crompton, ...
Annals of neurology 75 (5), 782-787, 2014
1502014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
CJ Milligan, M Li, EV Gazina, SE Heron, U Nair, C Trager, CA Reid, ...
Annals of neurology 75 (4), 581-590, 2014
1382014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
M Muona, SF Berkovic, LM Dibbens, KL Oliver, S Maljevic, MA Bayly, ...
Nature genetics 47 (1), 39-46, 2015
1352015
Channelopathies in idiopathic epilepsy
SE Heron, IE Scheffer, SF Berkovic, LM Dibbens, JC Mulley
Neurotherapeutics 4 (2), 295-304, 2007
1302007
Genetic variation of CACNA1H in idiopathic generalized epilepsy
SE Heron, HA Phillips, JC Mulley, A Mazarib, MY Neufeld, SF Berkovic, ...
Annals of neurology 55 (4), 595-596, 2004
1152004
SCN2A mutations and benign familial neonatal‐infantile seizures: the phenotypic spectrum
E Herlenius, SE Heron, BE Grinton, D Keay, IE Scheffer, JC Mulley, ...
Epilepsia 48 (6), 1138-1142, 2007
1032007
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations
P Bonanni, M Malcarne, F Moro, P Veggiotti, D Buti, AR Ferrari, E Parrini, ...
Epilepsia 45 (2), 149-158, 2004
952004
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl− extrusion and dendritic spine formation
M Puskarjov, P Seja, SE Heron, TC Williams, F Ahmad, X Iona, KL Oliver, ...
EMBO reports 15 (6), 723-729, 2014
922014
Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function
R Xu, EA Thomas, EV Gazina, KL Richards, M Quick, RH Wallace, ...
Neuroscience 148 (1), 164-174, 2007
792007
Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function
R Xu, EA Thomas, EV Gazina, KL Richards, M Quick, RH Wallace, ...
Neuroscience 148 (1), 164-174, 2007
792007
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
SE Heron, LM Dibbens
Journal of medical genetics 50 (3), 133-139, 2013
772013
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Articles 1–20