Samuel F Berkovic

Samuel F Berkovic

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Samuel F Berkovic

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Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes.

Epilepsy Res 2019 Oct 4;156:106163. Epub 2019 Jul 4.

Centre for Clinical Research, Faculty of Medicine, The University of Queensland, Queensland, Australia; Royal Brisbane and Women's Hospital, Queensland, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106163DOI Listing
October 2019

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.

Mov Disord 2019 Oct 4. Epub 2019 Oct 4.

Department of Neurology, University Groningen, University Medical Center Groningen, Groningen, Netherlands.

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http://dx.doi.org/10.1002/mds.27828DOI Listing
October 2019

The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence.

Ann Neurol 2019 Oct 21. Epub 2019 Oct 21.

Departments of Epidemiology and Neurology, and the G. H. Sergievsky Center, Columbia University; and Division of Translational Epidemiology, New York State Psychiatric Institute, New York, NY, USA.

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http://dx.doi.org/10.1002/ana.25625DOI Listing
October 2019

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Eur J Med Genet 2019 Oct 23:103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing
October 2019

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Predominantly nocturnal seizures post temporal lobectomy: Characteristics of an unusual outcome group.

Epilepsy Res 2019 Sep 16;155:106154. Epub 2019 Jun 16.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106154DOI Listing
September 2019

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Epilepsy Res 2019 Sep 2;155:106161. Epub 2019 Jul 2.

Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106161DOI Listing
September 2019

Epilepsy genetics: clinical impacts and biological insights.

Lancet Neurol 2019 Sep 4. Epub 2019 Sep 4.

Epilepsy Research Centre, Department of Medicine, University of Melbourne (Austin Health), Heidelberg, VIC, Australia. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30269-8DOI Listing
September 2019

Human generalized epilepsy: Increased somatosensory and striatothalamic connectivity.

Neurol Genet 2019 Aug 7;5(4):e340. Epub 2019 Jun 7.

The Florey Institute of Neuroscience and Mental Health (M.P., M.K., A.O., S.P., I.E.S., G.D.J.), Parkville; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville; Department of Neuroscience (P.P.), Central Clinical School, Monash University; Department of Neurology (P.P.), The Royal Melbourne Hospital, Parkville; Department of Neurology (P.P.), Alfred Health, Melbourne; Department of Medicine (P.P., S.P.), The Royal Melbourne Hospital, The University of Melbourne, Parkville; Epilepsy Research Centre (S.G., I.E.S., S.F.B., G.D.J.), Department of Medicine, The University of Melbourne, Austin Health, Heidelberg; and Department of Pediatrics (I.E.S.), The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563517PMC
August 2019

Epilepsy in families: Age at onset is a familial trait, independent of syndrome.

Ann Neurol 2019 Jul 20;86(1):91-98. Epub 2019 May 20.

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

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http://dx.doi.org/10.1002/ana.25499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565452PMC
July 2019

Evidence for type-specific DNA methylation patterns in epilepsy: a discordant monozygotic twin approach.

Epigenomics 2019 Jun 5;11(8):951-968. Epub 2019 Jun 5.

Environmental & Genetic Epidemiology Research, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria, Australia.

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http://dx.doi.org/10.2217/epi-2018-0136DOI Listing
June 2019

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.

N Engl J Med 2019 04;380(16):e24

University of Tübingen, Tübingen, Germany

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http://dx.doi.org/10.1056/NEJMc1805100DOI Listing
April 2019

Metabolic patterns and seizure outcomes following anterior temporal lobectomy.

Ann Neurol 2019 Feb 17;85(2):241-250. Epub 2019 Jan 17.

Departments of Medicine and Neurology, Melbourne Brain Centre, University of Melbourne, Royal Melbourne Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ana.25405DOI Listing
February 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340340PMC
January 2019

A new home for the Genetic Literacy series.

Epileptic Disord 2018 Dec;20(6):456

Department of Neurology, University of California, San Francisco, California, USA.

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http://dx.doi.org/10.1684/epd.2018.1022DOI Listing
December 2018

Development of a rapid functional assay that predicts GLUT1 disease severity.

Neurol Genet 2018 Dec 6;4(6):e297. Epub 2018 Dec 6.

Florey Institute of Neuroscience and Mental Health (S.M.Z., S.A.M., S.M., E.V.G., A.M.P., G.D.J., I.E.S., C.A.R., S. Petrou.); Department of Medicine (RMH) University of Melbourne (S.M.Z., S. Petrovski, M.S.H., J.D., S. Petrou); Department of Medicine (Austin Health) (M.S.H., J.D., S.F.B., I.E.S.), University of Melbourne, Heidelberg; Department of Neurology and Epileptology (H.L., Y.G.W.), Hertie Institute for Clinical Brain Research, University of Tübingen; School of Biosciences (A.M.P.), University of Melbourne, Parkville, Australia; APHP (S.A.), Hôpital Robert Debré, Service de Neurologie Pédiatrique; Univ Paris Diderot (S.A.), Sorbonne Paris Cité, INSERM UMR1141, Paris, France; and Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville, Australia.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290489PMC
December 2018

A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).

J Sleep Res 2018 10 25;27(5):e12669. Epub 2018 Feb 25.

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

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http://doi.wiley.com/10.1111/jsr.12669
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http://dx.doi.org/10.1111/jsr.12669DOI Listing
October 2018

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

Genetic literacy series: genetic epilepsy with febrile seizures plus.

Epileptic Disord 2018 Aug;20(4):232-238

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

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http://dx.doi.org/10.1684/epd.2018.0985DOI 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

Genetic generalized epilepsies.

Epilepsia 2018 06 9;59(6):1148-1153. Epub 2018 May 9.

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

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http://dx.doi.org/10.1111/epi.14042DOI Listing
June 2018

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy.

Proc Natl Acad Sci U S A 2018 06 29;115(24):E5516-E5525. Epub 2018 May 29.

Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia;

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http://dx.doi.org/10.1073/pnas.1800077115DOI Listing
June 2018

Can mutation-mediated effects occurring early in development cause long-term seizure susceptibility in genetic generalized epilepsies?

Epilepsia 2018 05 16;59(5):915-922. Epub 2018 Apr 16.

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

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http://doi.wiley.com/10.1111/epi.14077
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http://dx.doi.org/10.1111/epi.14077DOI Listing
May 2018

Teenage-onset progressive myoclonic epilepsy due to a familial repeat expansion.

Neurology 2018 02 19;90(8):e658-e663. Epub 2018 Jan 19.

From the Department of Neurology (J.v.d.A., A.S., A.M., P.S., B.D.) and Center for Medical Genetics (B.D.), Ghent University Hospital, Belgium; Institute for Inherited Metabolic Disorders (I.J., A.P., H.H., S.K.), Prague, First Faculty of Medicine, Charles University in Prague, Czech Republic; Neurodegenerative Brain Diseases Group (A.S., S.V.M., C.V.B.), Center for Molecular Neurology, VIB; Neuropathology and Laboratory of Neurochemistry and Behavior (A.S.), Laboratory of Neurogenetics (S.V.M., C.V.B.), and Laboratory of Neuromuscular Pathology and Translational Neurosciences (C.C.-d.G.), Institute Born-Bunge, University of Antwerp, Belgium; Institute of Pathology, First Faculty of Medicine (H.H., R.M.), Charles University and General University Hospital; Department of Pathology and Molecular Medicine (R.M.), National Reference Laboratory for Diagnostics of Human Prion Diseases, Thomayer Hospital, Prague, Czech Republic; Epilepsy Research Centre, Department of Medicine (S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; and Inserm U1167 (B.D.), Laboratoire d'Excellence Distalz, Institut Pasteur de Lille, Longevity Research Center, Université de Lille, France. J.v.d.A. is currently affiliated with the Department of Clinical Neurosciences and WT/CRUK Gurdon Institute, University of Cambridge, UK.

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http://dx.doi.org/10.1212/WNL.0000000000004999DOI Listing
February 2018

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

PLoS One 2018 19;13(1):e0191546. Epub 2018 Jan 19.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0191546PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774806PMC
February 2018

Precision therapy for epilepsy due to mutations: A randomized trial of oral quinidine.

Neurology 2018 01 1;90(1):e67-e72. Epub 2017 Dec 1.

From The Florey Institute of Neuroscience and Mental Health (S.A.M., P.W.C., L.C., U.N., M.L., S.P.), Epilepsy Research Centre, Department of Medicine (S.A.M., A.R., P.A.L., S.F.B., I.E.S.), and Department of Paediatrics, Royal Children's Hospital (I.E.S.), University of Melbourne; Department of Medicine (S.A.M., A.R., P.A.L., S.F.B., I.E.S.), and Department of Pharmacy (M.C.), Austin Health; and Department of Medicine (P.W.C.), Monash University and Eastern Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000004769DOI Listing
January 2018

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Pharmacol Rev 2018 01;70(1):142-173

The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Melbourne, Australia (J.O., S.M., I.E.S., S.P., C.A.R.); Department of Medicine, Austin Health, University of Melbourne, Heidelberg West, Melbourne, Australia (I.E.S., S.F.B.); and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia (I.E.S.)

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http://dx.doi.org/10.1124/pr.117.014456DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738717PMC
January 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

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death.

Genet Med 2017 10 23;19(10):1127-1133. Epub 2017 Mar 23.

Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia.

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http://dx.doi.org/10.1038/gim.2017.15DOI Listing
October 2017

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Res 2017 10 1;27(10):1715-1729. Epub 2017 Sep 1.

Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria 3010, Australia.

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http://dx.doi.org/10.1101/gr.226589.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630035PMC
October 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

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

Ann Neurol 2017 Aug 19;82(2):166-176. Epub 2017 Jul 19.

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

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http://dx.doi.org/10.1002/ana.24984DOI Listing
August 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurol Genet 2017 Aug 6;3(4):e163. Epub 2017 Jul 6.

Department of Medicine (C.A.B., S.P., K.L.O., S.F.B.), Epilepsy Research Centre; and Department of Medicine (S.P.), Royal Melbourne Hospital, University of Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503456PMC
August 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

Cannabinoids for Epilepsy - Real Data, at Last.

N Engl J Med 2017 05;376(21):2075-2076

From the Epilepsy Research Centre, University of Melbourne at Austin Health, Heidelberg, VIC, Australia.

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http://dx.doi.org/10.1056/NEJMe1702205DOI Listing
May 2017

Is a microRNA-328 binding site in associated with Rolandic epilepsy?

Ann Clin Transl Neurol 2017 04 23;4(4):276-277. Epub 2017 Mar 23.

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

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http://dx.doi.org/10.1002/acn3.401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5376748PMC
April 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

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

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

Reply: Transcranial magnetic stimulation as a biomarker for epilepsy.

Brain 2017 03;140(3):e19

Department of Medicine, The University of Melbourne, Parkville, Victoria, Australia.

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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

Synaptic Zn and febrile seizure susceptibility.

Br J Pharmacol 2017 01 28;174(2):119-125. Epub 2016 Nov 28.

Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.1111/bph.13658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192799PMC
January 2017

Epilepsy research in 2016: new treatment directions.

Lancet Neurol 2017 01;16(1):7-9

Epilepsy Research Centre, University of Melbourne, Heidelberg, VIC 3084, Australia. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(16)30334-9DOI Listing
January 2017

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

Periventricular Nodular Heterotopia: Detection of Abnormal Microanatomic Fiber Structures with Whole-Brain Diffusion MR Imaging Tractography.

Radiology 2016 Dec 29;281(3):896-906. Epub 2016 Jun 29.

From the Imaging Division, Florey Institute of Neuroscience and Mental Health, Melbourne Brain Centre, 245 Burgundy St, Melbourne, Australia 3084 (S.F., J.D.T., F.C., S.M., I.E.S., G.D.J., A.C.); Department of Medical Imaging and Radiation Sciences, Monash University, Melbourne, Australia (S.F., M.E.S.); Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia (J.D.T., F.C., G.D.J., A.C.); Department of Biomedical Engineering (J.D.T.) and Centre for the Developing Brain (J.D.T.), King's College London, London, England; Departments of Radiology (S.M.) and Paediatrics (S.M., I.E.S.), Royal Children's Hospital, University of Melbourne, Melbourne, Australia; and Epilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Melbourne, Australia (R.B., S.F.B., I.E.S.).

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http://dx.doi.org/10.1148/radiol.2016150852DOI Listing
December 2016

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

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy.

Epilepsia 2016 Oct 26;57(10):1719-1728. Epub 2016 Aug 26.

Department of Neurology, Austin Health, Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13505DOI Listing
October 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

Progressive myoclonus epilepsy associated with SACS gene mutations.

Neurol Genet 2016 Aug 23;2(4):e83. Epub 2016 Jun 23.

Division of Neurology (F.A.N., D.M.A.), Epilepsy Genetics Program, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Ontario, Canada; Department of Neurophysiopathology (L.C., S.F.), Epilepsy Center, C. Besta Neurological Institute IRCCS Foundation, Milan, Italy; Department of Neurology (D.A.), King Fahad Hospital of University, University of Dammam, Saudi Arabia; Folkhälsan Institute of Genetics (M.M., A.-E.L.), Helsinki, Finland; Research Programs Unit (M.M., A.-E.L.), Molecular Neurology and Neuroscience Center, Institute for Molecular Medicine Finland (M.M.), University of Helsinki, Finland; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Heidelberg, Victoria, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4936476PMC
August 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

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Epilepsia 2016 Apr 27;57(4):549-56. Epub 2016 Jan 27.

Department of Neurology, Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1111/epi.13318DOI Listing
April 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://dx.doi.org/10.1212/WNL.0000000000002608DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844234PMC
April 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

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery.

Neurol Genet 2016 Feb 14;2(1):e51. Epub 2016 Jan 14.

Epilepsy Research Centre (K.L.O., I.E.S., S.F.B.), Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Australia; Population Health and Immunity Division (V.L., S.F., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Florey Institute (I.E.S.), Melbourne, Australia; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Melbourne, Australia; and Department of Mathematics and Statistics (M.B.) and Department of Medical Biology (M.B.), University of Melbourne, Australia.

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http://dx.doi.org/10.1212/NXG.0000000000000051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817907PMC
February 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

Mind the gap: Multiple events and lengthy delays before presentation with a "first seizure".

Epilepsia 2015 Oct 31;56(10):1534-41. Epub 2015 Aug 31.

Department of Medicine, Melbourne Brain Centre at Royal Melbourne Hospital, University of Melbourne, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1111/epi.13127DOI Listing
October 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 2015

Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

Epilepsy Res 2015 Aug 5;114:98-105. Epub 2015 May 5.

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

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http://dx.doi.org/10.1016/j.eplepsyres.2015.04.014DOI Listing
August 2015

Genetics of Epilepsy in Clinical Practice.

Epilepsy Curr 2015 Jul-Aug;15(4):192-6

Director, Epilepsy Research Centre, University of Melbourne, Heidelberg, Australia.

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http://epilepsycurrents.org/doi/10.5698/1535-7511-15.4.192
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http://dx.doi.org/10.5698/1535-7511-15.4.192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4532231PMC
August 2015

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

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations.

Neurology 2015 Jul 26;85(4):316-24. Epub 2015 Jun 26.

From the Neurophysiopathology and Epilepsy Centre (L. Canafoglia, I.G., S.B., V. Scaioli, S.F.), Neuropathology-Neurology 5 (V.F., M.M.), Neuroradiology (L. Chiapparini), and Child Neurology and Psychiatry (T.G., N.N.), IRCCS Foundation C. Besta Neurological Institute, Milan; Molecular Neurogenetics (F.I., B.G.), IRCCS Foundation C. Besta Neurological Institute-Bicocca, Milan; G.F. Ingrassia Department (V. Sofia), University of Catania, Italy; and Epilepsy Research Center (S.F.B.), Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520821PMC
July 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.

Neurology 2015 Mar 11;84(9):951-8. Epub 2015 Feb 11.

From the Epilepsy Research Centre (R.H.T., L.M.Z., J.S.A., S.B.H., S.A.M., S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg, Australia; MRC Centre for Neuropsychiatric Genetics & Genomics (R.H.T.), Hadyn Ellis Building, Cathays, Cardiff University, UK; Department of Neurology (L.M.Z.), Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics (G.L.C., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Florey Institute of Neuroscience and Mental Health (S.A.M., I.E.S.), Melbourne, Australia; Departments of Radiology and Paediatrics (S.A.M., I.E.S.), Royal Children's Hospital, and University of Melbourne, Australia; Carol Davila University of Medicine (D.C.), Pediatric Neurology Clinic, Al Obregia Hospital, Bucharest, Romania; and TY Nelson Department of Neurology (D.S.G.), The Children's Hospital at Westmead, Sydney, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://dx.doi.org/10.1212/WNL.0000000000001305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351660PMC
March 2015

Cortical microarchitecture changes in genetic epilepsy.

Neurology 2015 Mar 4;84(13):1308-16. Epub 2015 Mar 4.

From The Florey Institute of Neuroscience and Mental Health (V.C.W., M.Y.-S.L., S.P.) and Centre for Neuroscience (S.P.), University of Melbourne; and Epilepsy Research Centre and Department of Medicine (S.F.B.), University of Melbourne, Austin Health, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000001415DOI Listing
March 2015

Lysosomal integral membrane protein type-2 (LIMP-2/SCARB2) is a substrate of cathepsin-F, a cysteine protease mutated in type-B-Kufs-disease.

Biochem Biophys Res Commun 2015 Feb 7;457(3):334-40. Epub 2015 Jan 7.

Biochemie III, Fakultät für Chemie, Universität Bielefeld, Universitätsstr. 25, D-33615, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2014.12.111DOI Listing
February 2015

Weight and fat distribution in patients taking valproate: a valproate-discordant gender-matched twin and sibling pair study.

Epilepsia 2014 Oct 14;55(10):1551-7. Epub 2014 Aug 14.

Department of Medicine, Melbourne Brain Centre, The Royal Melbourne Hospital, The University of Melbourne, Parkville, Victoria, Australia; Department of Medicine, St Vincent's Hospital, The University of Melbourne, Fitzroy, Victoria, Australia; Ormond College, Parkville, Victoria, Australia.

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http://doi.wiley.com/10.1111/epi.12745
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October 2014

'Idiopathic' no more! Abnormal interaction of large-scale brain networks in generalized epilepsy.

Brain 2014 Sep;137(Pt 9):2400-2

The Florey Institute of Neuroscience and Mental Health, Australia.

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http://dx.doi.org/10.1093/brain/awu194DOI Listing
September 2014

Rasmussen encephalitis and comorbid autoimmune diseases: A window into disease mechanism?

Neurology 2014 Sep 20;83(12):1049-55. Epub 2014 Aug 20.

From the Neurogenetics Unit (D.A., E.A.), Epilepsy Clinic (F.A.), and Neuroimmunology Unit (A.B.-O.), Montreal Neurological Hospital and Institute, Quebec, Canada; Departments of Neurology & Neurosurgery (D.A., F.A., E.A., A.B.-O.), Pediatrics (F.A.), and Human Genetics (E.A.), McGill University, Montreal, Quebec, Canada; Okmeydani Education and Research Hospital (D.K.), Istanbul, Turkey; Royal Victoria Infirmary (Y.H.), Newcastle-upon-Tyne, UK; Epilepsy Research Center (S.F.B.), Department of Medicine (Neurology), University of Melbourne, Australia; and Department of Neurology (K.L.), University of California at San Francisco.

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http://dx.doi.org/10.1212/WNL.0000000000000791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166360PMC
September 2014

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014