Publications by authors named "Sarah E Heron"

40Publications

BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.

Am J Med Genet A 2016 11 2;170(11):3033-3038. Epub 2016 Aug 2.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.37853
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http://dx.doi.org/10.1002/ajmg.a.37853DOI Listing
November 2016

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

J Med Genet 2016 Apr 6;53(4):217-25. Epub 2016 Jan 6.

Epilepsy Research Group, School of Pharmacy and Medical Sciences, Sansom Institute for Health Research and Centre for Cancer Biology, University of South Australia, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2015-103508DOI Listing
April 2016

Genetics of epilepsy: The testimony of twins in the molecular era.

Neurology 2014 Sep 8;83(12):1042-8. Epub 2014 Aug 8.

From the Epilepsy Research Centre, Department of Medicine (Neurology) (L.V., K.L., J.E., D.K., M.C., Y.T.-B., R.A.H., I.E.S., S.F.B.), University of Melbourne, Austin Health; School of Medicine (L.V.), The University of Queensland, Brisbane; Department of Neurology (L.V.), Royal Brisbane and Women's Hospital; Centre for Molecular, Environmental, Analytic and Genetic Epidemiology (R.L.M., J.L.H.), University of Melbourne; School of Pharmacy and Medical Sciences and Sansom Institute for Health Research (S.E.H., L.M.D.), University of South Australia, Adelaide; and the Department of Genetic Medicine, SA Pathology (J.C.M.), Women's and Children's Hospital, North Adelaide, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000000790DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166361PMC
September 2014

Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

Ann Neurol 2014 May 14;75(5):782-7. Epub 2014 Apr 14.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/ana.24126DOI Listing
May 2014

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies.

Epilepsia 2013 May 8;54(5):e86-9. Epub 2013 Apr 8.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/epi.12167DOI Listing
May 2013

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

J Med Genet 2013 Mar 23;50(3):133-9. Epub 2013 Jan 23.

School of Pharmacy and Medical Sciences, University of South Australia, P4-47, City East Campus, GPO Box 2471, Adelaide, SA 5001, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101406DOI Listing
March 2013

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.

Nat Genet 2012 Nov 21;44(11):1188-90. Epub 2012 Oct 21.

Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.

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http://dx.doi.org/10.1038/ng.2440DOI Listing
November 2012

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.

Epilepsia 2012 Aug 10;53(8):e151-5. Epub 2012 Jul 10.

Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

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http://doi.wiley.com/10.1111/j.1528-1167.2012.03585.x
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http://dx.doi.org/10.1111/j.1528-1167.2012.03585.xDOI Listing
August 2012

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures.

Neurol Res Int 2011 16;2011:917565. Epub 2011 Jul 16.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, SA 5006, Australia.

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http://www.hindawi.com/journals/nri/aip/917565.pdf
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http://www.hindawi.com/journals/nri/2011/917565/
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http://dx.doi.org/10.1155/2011/917565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139179PMC
November 2011

Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies.

Epilepsia 2011 Mar;52(3):649-50

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02953.xDOI Listing
March 2011

Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3.

Epilepsia 2010 Sep;51(9):1865-9

SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2010.02558.xDOI Listing
September 2010

Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy?

Epilepsia 2010 Feb 27;51(2):293-6. Epub 2009 Oct 27.

SA Pathology at Women's and Children's Hospital, North Adelaide, SA, Australia.

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http://doi.wiley.com/10.1111/j.1528-1167.2009.02317.x
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http://dx.doi.org/10.1111/j.1528-1167.2009.02317.xDOI Listing
February 2010

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

J Med Genet 2010 Feb 8;47(2):137-41. Epub 2009 Jul 8.

Epilepsy Program, SA Pathology at Women's and Children's Hospital, North Adelaide , South Australia SA 5006, Australia.

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http://dx.doi.org/10.1136/jmg.2008.065912DOI Listing
February 2010

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.

Epilepsia 2008 Dec 9;49(12):2125-9. Epub 2008 May 9.

Department of Medicine (Neurology), Epilepsy Research Centre, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01652.xDOI Listing
December 2008

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.

Ann Neurol 2007 Dec;62(6):560-8

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide South Australia, Australia.

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http://dx.doi.org/10.1002/ana.21169DOI Listing
December 2007

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.

Mol Cell Neurosci 2007 Jun 13;35(2):292-301. Epub 2007 Mar 13.

Howard Florey Institute, The University of Melbourne, Parkville, Victoria, 3010, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.mcn.2007.03.003DOI Listing
June 2007

Association studies and functional validation or functional validation alone?

Epilepsy Res 2007 May 11;74(2-3):237-8. Epub 2007 Apr 11.

Department of Genetic Medicine, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.03.003DOI Listing
May 2007

Channelopathies in idiopathic epilepsy.

Neurotherapeutics 2007 Apr;4(2):295-304

Department of Genetic Medicine, Women's and Children's Hospital, North Adelaide, South Australia 5006.

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http://www.neuro.it/documents/materiale%20didattico_Siena_20
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http://link.springer.com/10.1016/j.nurt.2007.01.009
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http://dx.doi.org/10.1016/j.nurt.2007.01.009DOI Listing
April 2007

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.

Epilepsia 2007 Jun 26;48(6):1138-42. Epub 2007 Mar 26.

Department of Woman and Child Health, Astrid Lindgren's Children's Hospital, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01049.xDOI Listing
June 2007

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

Epilepsia 2005 May;46(5):778-80

Epilepsy Research Centre and Department of Medicine (Neurology), University of Melbourne, Australia.

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http://dx.doi.org/10.1111/j.1528-1167.2005.49004.xDOI Listing
May 2005

Sodium-channel defects in benign familial neonatal-infantile seizures.

Lancet 2002 Sep;360(9336):851-2

Department of Laboratory Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/S0140-6736(02)09968-3DOI Listing
September 2002