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Sarah Heron

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Sarah E Heron; Jacinta M McMahon; Yeh Sze Ong; Ingrid E Scheffer; Simone C Yendle; Samuel F Berkovic; Leanne M Dibbens
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Sarah E Heron; Leanne M Dibbens
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Ingrid E Scheffer; Zaid Afawi; Ian Andrews; Samuel F Berkovic; Hadassa Goldberg-Stern; Bronwyn E Grinton; Renzo Guerrini; Sarah E Heron; Xenia Iona; Maria Kinali; Sara Kivity; Carla Marini; Lynette G Sadleir; Leanne M Dibbens
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

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All Publications

2013: Sarah E Heron; Jacinta M McMahon; Yeh Sze Ong; Ingrid E Scheffer; Simone C Yendle; Samuel F Berkovic; Leanne M Dibbens
Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.
Epilepsia 2013;54(5):e86-9.
2013: Sarah E Heron; Leanne M Dibbens
Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.
Journal of medical genetics 2013;50(3):133-9.
2012: Ingrid E Scheffer; Zaid Afawi; Ian Andrews; Samuel F Berkovic; Hadassa Goldberg-Stern; Bronwyn E Grinton; Renzo Guerrini; Sarah E Heron; Xenia Iona; Maria Kinali; Sara Kivity; Carla Marini; Lynette G Sadleir; Leanne M Dibbens
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Neurology 2012;79(21):2104-8.
2012: Sarah E Heron; Esther Kahana; Amos Korczyn; Laura Licchetta; Aziz Mazarib; Lino Nobili; Karen L Oliver; Steven Petrou; Giuseppe Plazzi; Ingrid E Scheffer; Katherine R Smith; Zaid Afawi; Melanie Bahlo; Samuel F Berkovic; Leanne M Dibbens
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
Nature genetics 2012;44(11):1188-90.
2012: Sarah E Heron; Bree L Hodgson; James N Hughes; Xenia Iona; Sara Kivity; Amos D Korczyn; John C Mulley; James T Pelekanos; Clair Pridmore; Lynette G Sadleir; Ingrid E Scheffer; Paul Q Thomas; Sameer M Zuberi; Zaid Afawi; Haim Bassan; Samuel F Berkovic; Mark Corbett; Alison E Gardner; Jozef Gecz; Hadassa Goldberg-Stern; Bronwyn E Grinton; Eric Haan; Eric Herlenius; Leanne M Dibbens
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
American journal of human genetics 2012;90(1):152-60.
2011: John C Mulley; Robyn H Wallace; Jozef Gecz; Sarah E Heron; Leanne M Dibbens
"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!
Epilepsia 2011;52(9):1757-8.
2011: Leanne M Dibbens; R Kneen; M A Bayly; Sarah E Heron; T Arsov; J A Damiano; T Desai; J Gibbs; F McKenzie; John C Mulley; A Ronan; Ingrid E Scheffer
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
Neurology 2011;76(17):1514-9.
2011: John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Sarah E Heron; Bree Hodgson; Xenia Iona; Leanne M Dibbens
The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.
Neurology research international 2011;2011():917565.
2010: Sarah E Heron; Ingrid E Scheffer; Bronwyn E Grinton; Helen Eyre; Karen L Oliver; Sharon Bain; Samuel F Berkovic; John C Mulley
Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.
Epilepsia 2010;51(9):1865-9.
2010: Sarah E Heron; Marta Hernandez; Caitlin Edwards; Edward Edkins; Floor E Jansen; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?
Epilepsia 2010;51(2):293-6.
2010: Sarah E Heron; Ingrid E Scheffer; Xenia Iona; Sameer M Zuberi; Rachael Birch; Jacinta M McMahon; Carla M Bruce; Samuel F Berkovic; John C Mulley
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Journal of medical genetics 2010;47(2):137-41.
2008: Christopher P Derry; Sarah E Heron; Fiona Phillips; Stephen Howell; Jacinta MacMahon; Hilary A Phillips; John S Duncan; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
Epilepsia 2008;49(12):2125-9.
2007: Sarah E Heron; Houman Khosravani; Diego Varela; Christopher Bladen; Tristiana C Williams; Michelle R Newman; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley; Gerald W Zamponi
Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.
Annals of neurology 2007;62(6):560-8.
2007: Sarah E Heron; K Cox; Bronwyn E Grinton; Sameer M Zuberi; S Kivity; Z Afawi; Rachel Straussberg; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
Journal of medical genetics 2007;44(12):791-6.
2007: Leanne M Dibbens; Sarah E Heron; John C Mulley
A polygenic heterogeneity model for common epilepsies with complex genetics.
Genes, brain, and behavior 2007;6(7):593-7.
2007: Ruwei Xu; Evan A Thomas; Elena V Gazina; K L Richards; M Quick; Robyn H Wallace; Louise A Harkin; Sarah E Heron; Samuel F Berkovic; Ingrid E Scheffer; John C Mulley; Steven Petrou
Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function.
Neuroscience 2007;148(1):164-74.
2007: Ruwei Xu; Evan A Thomas; Misty Jenkins; Elena V Gazina; Cindy Chiu; Sarah E Heron; John C Mulley; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
Molecular and cellular neurosciences 2007;35(2):292-301.
2007: Eric Herlenius; Sarah E Heron; Bronwyn E Grinton; Deborah Keay; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic
SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.
Epilepsia 2007;48(6):1138-42.
2007: Sarah E Heron; Louisa Sanchez; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Association studies and functional validation or functional validation alone?
Epilepsy research 2007;74(2-3):237-8.
2007: Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; Leanne M Dibbens; John C Mulley
Channelopathies in idiopathic epilepsy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2007;4(2):295-304.
2005: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; Samuel F Berkovic; John C Mulley
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?
Epilepsia 2005;46(5):778-80.
2004: Nigel C K Tan; Sarah E Heron; Ingrid E Scheffer; James T Pelekanos; Jacinta M McMahon; D F Vears; John C Mulley; Samuel F Berkovic
Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy.
Neurology 2004;63(6):1090-2.
2004: Sarah E Heron; Hilary A Phillips; John C Mulley; Aziz Mazarib; Miri Y Neufeld; Samuel F Berkovic; Ingrid E Scheffer
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
Annals of neurology 2004;55(4):595-6.
2004: Samuel F Berkovic; Sarah E Heron; Lucio Giordano; Carla Marini; Renzo Guerrini; Robert E Kaplan; Antonio Gambardella; Ortrud K Steinlein; Bronwyn E Grinton; Joanne T Dean; Laura Bordo; Bree L Hodgson; Toshiyuki Yamamoto; John C Mulley; Federico Zara; Ingrid E Scheffer
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Annals of neurology 2004;55(4):550-7.
2004: Michaella C Richards; Sarah E Heron; Hayley E Spendlove; Ingrid E Scheffer; Bronwyn E Grinton; Samuel F Berkovic; John C Mulley; A Davy
Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction.
Journal of medical genetics 2004;41(3):e35.
2004: Paolo Bonanni; Michela Malcarne; Francesca Moro; Pierangelo Veggiotti; Daniela Buti; Anna Rita Ferrari; Elena Parrini; Davide Mei; Anna Volzone; Federico Zara; Sarah E Heron; Laura Bordo; Carla Marini; Renzo Guerrini
Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Epilepsia 2004;45(2):149-58.
2002: Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew F Bleasel; Michael Shevell; Suha Mercho; Marie-Hélène Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Sodium-channel defects in benign familial neonatal-infantile seizures.
Lancet 2002;360(9336):851-2.
2001: Hilary A Phillips; I Favre; Martin Kirkpatrick; Sameer M Zuberi; David R Goudie; Sarah E Heron; Ingrid E Scheffer; Grant R Sutherland; Samuel F Berkovic; D Bertrand; John C Mulley
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
American journal of human genetics 2001;68(1):225-31.