Publications by authors named "John A Damiano"

29Publications

SCN1A Variants in vaccine-related febrile seizures: A prospective study.

Ann Neurol 2020 02 12;87(2):281-288. Epub 2019 Dec 12.

Department of Medicine, University of Melbourne, Austin Hospital, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.25650DOI Listing
February 2020

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy.

Epilepsia 2018 08 4;59(8):e125-e129. Epub 2018 Jul 4.

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

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http://dx.doi.org/10.1111/epi.14506DOI Listing
August 2018

Somatic mutation in the of Sturge-Weber syndrome.

Neurol Genet 2018 Jun 1;4(3):e236. Epub 2018 May 1.

Department of Medicine (Austin Hospital) (M.S.H., J.A.D., Z.Y., L.M., I.E.S., S.F.B.), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Childrens Research Institute (M.S.H., A.S.H., G.G., K.P., P.J.L., R.J.L.), Parkville, Victoria, Australia; Department of Paediatrics (Royal Children's Hospital) (A.S.H., G.G., K.P., P.J.L., R.J.L., I.E.S.), Department of Pathology (H.D., R.K., A.D), and Department of Medicine (Royal Melbourne Hospital) (E.O., N.C.J.), University of Melbourne, Parkville, Victoria, Australia; Department of Neurology (A.S.H., R.J.L., I.E.S.) and Department of Neurosurgery (W.M.), Royal Children's Hospital, Parkville, Victoria, Australia; Department of Neurosciences (S.M., B.N.) and Neurosurgical Department (M.W.), Lady Cilento Children's Hospital, Brisbane, Queensland, Australia; Translational Genomics and Epigenomics Laboratory (H.D., A.D.), Olivia Newton-John Cancer Research Institute, Heidelberg, Victoria, Australia; School of Cancer Medicine (H.D., A.D.), La Trobe University, Bundoora, Victoria, Australia; Anatomical Pathology (R.K.), Austin Health, Heidelberg, Victoria, Australia; Department of Neuroscience (N.C.J.), Central Clinical School, Monash University, Victoria, Australia; and Department of Neurology (N.C.J.), The Alfred Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931068PMC
June 2018

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome.

Epileptic Disord 2017 Dec;19(4):450-455

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

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http://dx.doi.org/10.1684/epd.2017.0944DOI Listing
December 2017

Genetic epilepsy with febrile seizures plus: Refining the spectrum.

Neurology 2017 Sep 25;89(12):1210-1219. Epub 2017 Aug 25.

From the Epilepsy Research Centre, Department of Medicine (Y.-H.Z., R.B., J.P.M., G.C.G., K.L.H., L.V., B.E.G., S.T.B., D.F.V., J.A.D., M.S.H., S.F.B., I.E.S.), The University of Melbourne, Austin Health, Australia; Department of Pediatrics (Y.-H.Z.), Peking University First Hospital, Beijing, China; Department of Neurology (L.V.), The University of Queensland Centre for Clinical Research, Royal Brisbane and Women's Hospital, Australia; Schneider Children's Medical Center of Israel (S.K., H.G.-S.), Petach Tikvah; Department of Neurology (Z.A.), Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel; Westmead Hospital (A.B.), New South Wales, Australia; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Australia; Department of Neurology (A.D.K.), Tel Aviv University, Israel; Women's and Children's Hospital (L.M.D.), University of Adelaide, South Australia; Center for Neurobehavioral Genetics (E.K.R.), Semel Institute, David Geffen School of Medicine, University of California, Los Angeles; Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, Victoria; and The Florey Institute of Neurosciences and Mental Health (I.E.S.), Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004384DOI Listing
September 2017

Evaluation of GLUT1 variation in non-acquired focal epilepsy.

Epilepsy Res 2017 07 10;133:54-57. Epub 2017 Apr 10.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.04.007DOI Listing
July 2017

Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsy.

Epilepsy Res 2017 03 7;131:1-8. Epub 2017 Feb 7.

Departments of Medicine and Neurology, The Royal Melbourne Hospital, The University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.001DOI Listing
March 2017

SCN1A clinical spectrum includes the self-limited focal epilepsies of childhood.

Epilepsy Res 2017 03 4;131:9-14. Epub 2017 Feb 4.

Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.01.012DOI Listing
March 2017

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum.

Epilepsia 2017 03 18;58(3):e40-e43. Epub 2017 Jan 18.

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

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http://dx.doi.org/10.1111/epi.13666DOI Listing
March 2017

De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Epilepsia 2017 02 13;58(2):e26-e30. Epub 2017 Jan 13.

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

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http://dx.doi.org/10.1111/epi.13649DOI Listing
February 2017

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Epilepsy Res 2016 12 25;128:48-51. Epub 2016 Oct 25.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2016.10.008DOI Listing
December 2016

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Neurology 2016 Aug 13;87(6):579-84. Epub 2016 Jul 13.

From the Epilepsy Research Centre, Department of Medicine (S.F.B., K.L.O., J.A.D., M.S.H.), University of Melbourne, Austin Health, Heidelberg, Australia; Biogen, Inc. (J.F.S.), Cambridge, MA; Department of Pathology (S.C.), Centro Hospitalar São João, Porto, Portugal; Institute of Inherited Metabolic Disorders (S.K., I.J., A.P.), First Faculty of Medicine, Charles University in Prague; General University Hospital in Prague (S.K.), Czech Republic; Great Ormond Street Hospital for Children NHS Foundation Trust (G.W.A.), London, UK; Center for Human Genetic Research and Department of Neurology (K.B.S., S.L.C.), Harvard Medical School, Massachusetts General Hospital, Boston; Population Health and Immunity Division (M.B., K.R.S.), The Walter and Eliza Hall Institute of Medical Research; Departments of Mathematics and Statistics and Medical Biology (M.B.), University of Melbourne, Australia; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (M.C.-D., P.C.), University of Montreal, Canada; and MRC Laboratory for Cell Biology (S.E.M.), Department of Genetics, Evolution & Environment and UCL Institute of Child Health, University College London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000002943DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977374PMC
August 2016

Evaluation of non-coding variation in GLUT1 deficiency.

Dev Med Child Neurol 2016 Dec 6;58(12):1295-1302. Epub 2016 Jun 6.

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

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http://dx.doi.org/10.1111/dmcn.13163DOI Listing
December 2016

A targeted resequencing gene panel for focal epilepsy.

Neurology 2016 Apr 30;86(17):1605-12. Epub 2016 Mar 30.

From the Epilepsy Research Centre (M.S.H., B.M.R., J.A.D., S.A.M., M.R.N., I.E.S., S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia; Division of Genetic Medicine (C.T.M., G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Florey Institute for Neuroscience and Mental Health (U.N., E.V.G., C.J.M., C.A.R., S.P., I.E.S.), University of Melbourne, Melbourne, Victoria, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia; and Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://www.neurology.org/content/early/2016/03/30/WNL.000000
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000260
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http://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 2016

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy.

Epilepsy Res 2015 Nov 9;117:70-3. Epub 2015 Sep 9.

Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09201211153004
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http://dx.doi.org/10.1016/j.eplepsyres.2015.09.007DOI Listing
November 2015

Glucose metabolism transporters and epilepsy: only GLUT1 has an established role.

Epilepsia 2014 Feb 31;55(2):e18-21. Epub 2014 Jan 31.

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

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http://dx.doi.org/10.1111/epi.12519DOI Listing
February 2014

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Hum Genet 2014 May 10;133(5):673-4. Epub 2014 Jan 10.

Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.

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http://dx.doi.org/10.1007/s00439-013-1414-0DOI Listing
May 2014

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.

Ann Neurol 2012 Nov;72(5):807-15

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

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http://doi.wiley.com/10.1002/ana.23702
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http://dx.doi.org/10.1002/ana.23702DOI Listing
November 2012

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.

Epilepsia 2012 Dec 25;53(12):e204-7. Epub 2012 Oct 25.

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

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http://dx.doi.org/10.1111/epi.12007DOI Listing
December 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