Dr Sarah Heron

Research Fellow

Adelaide Medical School

Faculty of Health and Medical Sciences

Neurogenetics Research Group, Adelaide Medical School, University of Adelaide.

My Research
Career
Publications
Professional Activities
Contact

I am a molecular geneticist with an interest in the genetics of epilepsy. I have been involved in the discovery of epilepsy genes including SCN2A, KCNT1, PRRT2 and DEPDC5. My current research focuses on the use of genomics to identify genes in "unsolved" epilepsy families and the functional characterisation of genetic variants associated with epilepsy.

Appointments

Date	Position	Institution name
2017	Research Fellow	University of Adelaide
2011 - 2016	Research Fellow	University of South Australia
2010 - 2011	Senior Medical Scientist	SA Pathology at Women's and Children's Hospital
2000 - 2007	Senior Medical Scientist	Women's and Children's Hospital
1997 - 1999	Research Assistant	Cambridge University
1996 - 1997	Research Assistant	Institute of Medical and Veterinary Science
1994 - 1995	Research Assistant	Women's and Children's Hospital
1992 - 1994	Research Assistant	Univeristy of Adelaide

Education

Date	Institution name	Country	Title
2007 - 2010	The University of Adelaide	Australia	PhD
1991 - 1991	Flinders University	Australia	BSc (Hons)
1988 - 1990	The University of Adelaide	Australia	BSc

Research Interests

Genetics & Heredity Genomics Neurogenetics Child and Adolescent Health Neuroscience, Behaviour and Brain Health

Journals

Year	Citation
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

Book Chapters

Year	Citation
2011	Heron, S., & Mulley, J. (2011). The Molecular Genetics of the Benign Epilepsies of Infancy. In Z. Afawi (Ed.), Clinical and Genetic Aspects of Epilepsy (1 ed., pp. 95-112). Croatia: InTech. DOI

Conference Papers

Year	Citation
2011	Heron, S., Gardner, A., Corbett, M., Gecz, J., Grinton, B., Zuberi, S., . . . Mulley, J. (2011). IS BENIGN FAMILIAL INFANTILE EPILEPSY (BFIE) LINKED TO CHROMOSOME 16P11.2-Q12.1 THE RESULT OF AN UNUSUAL MUTATIONAL MECHANISM?. In EPILEPSIA Vol. 52 (pp. 98-99). Rome, ITALY: WILEY-BLACKWELL.
2008	Heron, S. E., Scheffer, I. E., Iona, X., McMahon, J., Bruce, C., Birch, R., . . . Mulley, J. C. (2008). DE NOVO SCN1A MUTATIONS IN DRAVET SYNDROME ARE MOST FREQUENTLY OF PATERNAL ORIGIN. In EPILEPSIA Vol. 49 (pp. 314). Seattle, WA: WILEY-BLACKWELL PUBLISHING, INC.
2007	Varela, D., Khosravani, H., Heron, S. E., Bladen, C., Williams, T. C., Newman, M., . . . Zamponi, G. W. (2007). Functional characterization of genetically identified variants in the T-type calcium channel gene CACNA1H associated with idiopathic epilepsy. In BIOPHYSICAL JOURNAL (pp. 601A-602A). Baltimore, MD: BIOPHYSICAL SOCIETY. WoS4
2004	Tan, N., Heron, S., Scheffer, I., Mulley, J., & Berkovic, S. (2004). Failure to confirm association between GABA(B) receptor 1 polymorphism (G1465A) and temporal lobe epilepsy. In EPILEPSIA Vol. 45 (pp. 227). New Orlands, LA: BLACKWELL PUBLISHING INC.

Conference Items

Year	Citation
2014	Dibbens, L., Scheffer, I., Regan, B., Mandelstam, S., Crompton, D., Hodgson, B., . . . Heron, S. (2014). MUTATIONS IN DEPDC5 ARE A MAJOR CAUSE OF LESIONAL AND NON-LESIONAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Stockholm, SWEDEN: WILEY-BLACKWELL.
2013	Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., Chintawar, S., . . . Scheffer, I. (2013). MUTATIONS IN DEPDC5: A MAJOR CAUSE OF FAMILIAL FOCAL EPILEPSY. Poster session presented at the meeting of EPILEPSIA. Montreal, CANADA: WILEY-BLACKWELL.
2013	Pandolfo, M., Dibbens, L., de Vries, B., Donatello, S., Heron, S., Hodgson, B., . . . Scheffer, I. (2013). Mutations in DEPDC5 cause Familial Focal Epilepsy with Variable Foci and are a common cause of familial non-lesional focal epilepsy. Poster session presented at the meeting of NEUROLOGY. San Diego, CA: LIPPINCOTT WILLIAMS & WILKINS.

Committee Memberships

Date	Role	Committee	Institution	Country
2018 - ongoing	Co-Chair	HGSA 2020 Annual Scientific Meeting Local Organising Committee	Human Genetics Society of Australasia	Australia
2018 - ongoing	Member	HGSA Scientific Program Committee	Human Genetics Society of Australasia	Australia
2015 - 2019	President	HGSA-SA Branch Commitee	Human Genetics Society of Australasia	Australia
2010 - ongoing	Member	HGSA-SA Branch Committee	Human Genetics Society of Australasia	Australia

Position: Research Fellow
Phone: 83137924
Email: sarah.heron@adelaide.edu.au
Campus: North Terrace
Building: Adelaide Health and Medical Sciences, floor 8
Room: WS8071.07
Org Unit: Adelaide Medical School