Publications by authors named "Jacinta M McMahon"

37Publications

ADGRV1 is implicated in myoclonic epilepsy.

Epilepsia 2018 02 20;59(2):381-388. Epub 2017 Dec 20.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Vic., Australia.

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http://doi.wiley.com/10.1111/epi.13980
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http://dx.doi.org/10.1111/epi.13980DOI Listing
February 2018

Sleep problems in Dravet syndrome: a modifiable comorbidity.

Dev Med Child Neurol 2018 02 7;60(2):192-198. Epub 2017 Nov 7.

Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1111/dmcn.13601DOI Listing
February 2018

Mortality in Dravet syndrome.

Epilepsy Res 2016 12 26;128:43-47. Epub 2016 Oct 26.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.006DOI Listing
December 2016

Epileptic spasms are a feature of DEPDC5 mTORopathy.

Neurol Genet 2015 Aug 23;1(2):e17. Epub 2015 Jul 23.

Division of Genetic Medicine (G.L.C., J. Saykally, M.Z., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Epilepsy Research Centre (D.E.C., B.M.R., J.M.M., A.L.S., S.A.M., S.F.B., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Neurology Department (D.E.C.), Northern Health, Melbourne, Australia; Epilepsy Research Program (L.D.), School of Pharmacy and Medical Sciences, and Sansom Institute for Health Research (L.D.), University of South Australia, Adelaide, Australia; Department of Neurology (K.B.H., R.J.L., A.S.H., I.E.S.), Royal Children's Hospital, Melbourne, Australia; Florey Institute of Neuroscience and Mental Health (K.B.H., S.M., R.J.L., A.S.H., S.A.M., I.E.S.), Melbourne, Australia; Murdoch Childrens Research Institute (K.B.H., R.J.L., A.S.H.), Melbourne, Australia; Department of Paediatrics (S.M., R.J.L., A.S.H.) and Department of Radiology (S.M.), The University of Melbourne, Melbourne, Australia; and Epilepsy Division (J. Sullivan), Department of Neurology and Pediatrics, University of California, San Francisco.

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http://dx.doi.org/10.1212/NXG.0000000000000016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807908PMC
August 2015

Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.

Epilepsy Res 2015 Dec 24;118:22-8. Epub 2015 Oct 24.

NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, United Kingdom; Epilepsy Society, Chalfont St Peter, United Kingdom.

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http://dx.doi.org/10.1016/j.eplepsyres.2015.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819482PMC
December 2015

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.

Neurology 2015 Sep 19;85(11):958-66. Epub 2015 Aug 19.

From the Departments of Neurology (K.B.H., M.T.M., V.R.-C., J.L.F., A.S.H., I.E.S.) and Radiology (S.M.), The Royal Children's Hospital, Melbourne; Department of Paediatrics (K.B.H., M.T.M., S.M., A.S.H., I.E.S.), The University of Melbourne; Murdoch Childrens Research Institute (K.B.H., M.T.M., J.L.F., A.S.H.), Melbourne; Epilepsy Research Centre (J.M.M., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Paediatrics, University of Washington, Seattle; Epilepsy Genetics Program (D.T., H.E.O., A.P.), Department of Neurology, Harvard Medical School, Boston Children's Hospital, MA; TY Nelson Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Sydney; Department of Neurology (D.C.), Women's and Children's Hospital, Adelaide; Neurosciences Children's Health Queensland (S.C.), Lady Cilento Children's Hospital, Brisbane; and Florey Institute of Neuroscience and Mental Health (S.M., A.S.H., I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001926DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567464PMC
September 2015

Favourable response to ketogenic dietary therapies: undiagnosed glucose 1 transporter deficiency syndrome is only one factor.

Dev Med Child Neurol 2015 Oct 23;57(10):969-76. Epub 2015 Apr 23.

NIHR University College London Hospitals Biomedical Research Centre, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1111/dmcn.12781DOI Listing
October 2015

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline.

Dev Med Child Neurol 2014 Jan 25;56(1):85-90. Epub 2013 Oct 25.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia; Department of Paediatrics, School of Medicine, Chonnam National University, Gwangju, Korea.

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http://dx.doi.org/10.1111/dmcn.12322DOI Listing
January 2014

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

Epilepsia 2013 Sep 29;54(9):e122-6. Epub 2013 Jul 29.

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

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http://dx.doi.org/10.1111/epi.12323DOI Listing
September 2013

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

Do mutations in SCN1B cause Dravet syndrome?

Epilepsy Res 2013 Jan 20;103(1):97-100. Epub 2012 Nov 20.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Melbourne, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.10.009DOI Listing
January 2013

Progressive gait deterioration in adolescents with Dravet syndrome.

Arch Neurol 2012 Jul;69(7):873-8

Department of Physiotherapy, Melbourne School of Health Sciences, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1001/archneurol.2011.3275DOI Listing
July 2012

Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations.

Epilepsy Res 2012 Jun 3;100(1-2):194-8. Epub 2012 Mar 3.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2012.02.007DOI Listing
June 2012

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

N Engl J Med 2010 Sep;363(14):1335-40

Epilepsy Research Center, Austin Health, University of Melbourne, Melbourne, VIC, Australia.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa0910752
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http://dx.doi.org/10.1056/NEJMoa0910752DOI Listing
September 2010

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.

Brain 2010 Nov 23;133(11):3221-31. Epub 2010 Sep 23.

Department of Medicine and Epilepsy Research Centre, University of Melbourne, Austin Health, West Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1093/brain/awq251DOI Listing
November 2010

Detection of microchromosomal aberrations in refractory epilepsy: a pilot study.

Epileptic Disord 2010 Sep 19;12(3):192-8. Epub 2010 Jul 19.

Department of Medicine, University of Melbourne, Australia.

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http://dx.doi.org/10.1684/epd.2010.0326DOI Listing
September 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

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Epilepsy Res 2007 Aug 6;76(1):41-8. Epub 2007 Aug 6.

INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.06.014DOI Listing
August 2007

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Lancet Neurol 2006 Jun;5(6):488-92

Epilepsy Research Centre and Department of Medicine, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia.

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http://dx.doi.org/10.1016/S1474-4422(06)70446-XDOI Listing
June 2006