Publications by authors named "Ingrid Scheffer"

100Publications

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Am J Hum Genet 2020 Oct 14. Epub 2020 Oct 14.

Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas (CSIC)-Universidad Autónoma de Madrid (UAM), Madrid, 28029, Spain; CIBER de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, 28029, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma, Madrid, 28046, Spain; ITHACA, European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.09.005DOI Listing
October 2020

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Nat Commun 2020 10 1;11(1):4932. Epub 2020 Oct 1.

Department of Genome Sciences, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/s41467-020-18723-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7530681PMC
October 2020

Genetic Contributions to Acquired Epilepsies.

Epilepsy Curr 2020 Sep 29:1535759720954254. Epub 2020 Sep 29.

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

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http://dx.doi.org/10.1177/1535759720954254DOI Listing
September 2020

Cognitive, behavioral, and social functioning in children and adults with Dravet syndrome.

Epilepsy Behav 2020 Aug 25;112:107319. Epub 2020 Aug 25.

Murdoch Children's Research Institute, Royal Children's Hospital, 50 Flemington Road, Parkville, 3052, Melbourne, Australia; Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Australia; Florey Institute of Neuroscience and Mental Health, Heidelberg, Australia; Department of Paediatrics, The University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2020.107319DOI Listing
August 2020

Medullary tyrosine hydroxylase catecholaminergic neuronal populations in sudden unexpected death in epilepsy.

Brain Pathol 2020 Aug 15. Epub 2020 Aug 15.

Department of Clinical and Experimental epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 2BG, UK.

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http://dx.doi.org/10.1111/bpa.12891DOI Listing
August 2020

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

Adv Exp Med Biol 2020 Aug 28. Epub 2020 Aug 28.

Adelaide Medical School, the University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1007/5584_2020_574DOI Listing
August 2020

In response to 'Volume loss and altered neuronal composition in the brainstem reticular zone may not cause sudden unexpected death in epilepsy'.

Neuropathol Appl Neurobiol 2020 Aug 7. Epub 2020 Aug 7.

Departments of Neuropathology, UCL Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom of Great Britain and Northern Ireland.

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http://dx.doi.org/10.1111/nan.12653DOI Listing
August 2020

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

Dev Med Child Neurol 2020 Nov 15;62(11):1331-1335. Epub 2020 Jun 15.

Department of Developmental Neurosciences, UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1111/dmcn.14588DOI Listing
November 2020

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Neurology 2020 05 28;94(20):e2148-e2167. Epub 2020 Apr 28.

From the Department of Medicine (M.S.H., M.C., K.A.R., I.E.S.), The University of Melbourne, Austin Health, Heidelberg; Population Health and Immunity Division (V.E.J., T.S.S., M.B.), The Walter and Eliza Hall Institute of Medical Research; Departments of Medical Biology (V.E.J., T.S.S., M.B.) and Audiology and Speech Pathology (R.O.B., A.T.M.) and Department of Paediatrics, The Royal Children's Hospital (B.P.-F., G.P., M.H., D.J.A., I.E.S.), The University of Melbourne; Speech and Language (O.V.R., R.O.B., S.T., S.B., S.R., A.T.M.), Murdoch Children's Research Institute (M.S.H., D.J.A., I.E.S.); Victorian Clinical Genetics Services (A. Boys, M.D.), Parkville, Victoria; Department of Neurology (R.W.) and Clinical Genetics (A.M.), The Children's Hospital Westmead; Department of Paediatrics (M.F., K.S.), Monash University; Monash Children's Hospital (K.S.), Clayton, Victoria; The Wesley Hospital (D.C.), Auchenflower, Queensland; Hunter Genetics (H.G., A. Baxter), John Hunter Hospital, New Lambton Heights; Melbourne Children's Clinic (N.D.), Victoria; Griffith University (S.R.), Mount Gravatt, Queensland, Australia; UCL Great Ormond Street Institute of Child Health (F.J.L.), London, UK; Florey Institute of Neuroscience and Mental Health (A.C., I.E.S.), Parkville, Victoria; South Australian Health and Medical Research Institute (J.G.), Robinson Research Institute and Adelaide Medical School, University of Adelaide, South Australia; Language and Genetics Department (S.E.F.), Max Planck Institute for Psycholinguistics; and Donders Institute for Brain, Cognition and Behaviour (S.E.F.), Radboud University, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000009441DOI Listing
May 2020

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

J Paediatr Child Health 2020 Aug 24;56(8):1210-1218. Epub 2020 Apr 24.

Genetic Metabolic Disorders Service, The Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/jpc.14890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7497200PMC
August 2020

Keeping people with epilepsy safe during the COVID-19 pandemic.

Neurology 2020 06 23;94(23):1032-1037. Epub 2020 Apr 23.

From the Department Neurology (J.A.F.), NYU Grossman School of Medicine New York University, NY; Epilepsy Unit (M.J.B.), International Bureau for Epilepsy, Scottish Epilepsy Initiative, Glasgow, Scotland; Neurology (R.C.), Hospital J P Garrahan, Buenos Aires, AR; Department Neurology (O.D.), NYU Grossman School of Medicine, NY; Institute of Neurology (D.D.), Huashan Hospital, Fudan University, Shanghai, China; Cleveland Clinic Epilepsy Center (L.J.), Cleveland, OH; Department of Neurology (N.J.), Icahn School of Medicine at Mount Sinai, New York, NY; Division of Epilepsy (A.K.), Department of Neurology, Miller School of Medicine, University of Miami, FL; Cincinnati Children's Hospital Medical Center (A.C.M.), School of Medicine, University of Cincinnati, OH; KEMRI-Wellcome Programme (C.R.N.), Kilifi, Kenya and Department of Psychiatry (C.R.N.), University of Oxford, United Kingdom; Division of Epilepsy and Clinical Neurophysiology (A.A.P.), Department of Neurology, Harvard Medical School, Boston Children's Hospital, MA; Harvard Medical School (P.B.P.), Brigham and Women's Hospital, Boston, MA; Department of Internal Medicine and Therapeutics (E.P.), University of Pavia and IRCCS Mondino Foundation, Member of the ERN EpiCARE, Pavia, Italy; UCL Queen Square Institute of Neurology (J.W.S.), London, United Kingdom and Stichting Epilepsie Instelligen Nederland (SEIN) (J.W.S.), Heemstede, Netherlands; University of Melbourne (I.E.S.), Austin and Royal Children's Hospitals, Florey and Murdoch Children's Research Institutes, Melbourne, Australia; Dayanand Medical College (G.S.), Ludhiana, India; Matthew's Friends-Ketogenic Dietary Therapies (E.W.), London, United Kingdom; Department of Paediatric Neurology (J.W.), Red Cross War Memorial Children's Hospital, Neuroscience Institute, Cape Town, South Africa; and UCL NIHR BRC Great Ormond Street Institute of Child Health (J.H.C.), Great Ormond Street Hospital for Children, London, United Kingdom and Member of the ERN EpiCARE (J.H.C.), Young Epilepsy, Lingfield, United Kingdom.

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http://dx.doi.org/10.1212/WNL.0000000000009632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455365PMC
June 2020

Parental health spillover effects of paediatric rare genetic conditions.

Qual Life Res 2020 Sep 7;29(9):2445-2454. Epub 2020 Apr 7.

Centre for Health Policy, University of Melbourne, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s11136-020-02497-3DOI Listing
September 2020

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

How gene discovery has transformed management of people with epilepsy.

Eur J Paediatr Neurol 2020 01 10;24. Epub 2020 Jan 10.

University of Melbourne, Austin Health, Royal Children's Hospital, Florey Institute, Murdoch Children's Research Institute, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.01.010DOI Listing
January 2020

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

Eur J Paediatr Neurol 2020 Jan 3;24:142-147. Epub 2020 Jan 3.

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

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http://dx.doi.org/10.1016/j.ejpn.2019.12.020DOI Listing
January 2020

Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy".

Eur J Paediatr Neurol 2020 Jan 31;24:11-14. Epub 2019 Dec 31.

Epilepsy Center, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, China.

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http://dx.doi.org/10.1016/j.ejpn.2019.12.023DOI Listing
January 2020

SCN1A-related phenotypes: Epilepsy and beyond.

Epilepsia 2019 12;60 Suppl 3:S17-S24

Reference Centre for Rare Epilepsies, Department of Paediatric Neurology, Necker Enfants Malades Hospital, Imagine Institute U1163, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1111/epi.16386DOI Listing
December 2019

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.

Dev Med Child Neurol 2020 Sep 23;62(9):1096-1099. Epub 2019 Dec 23.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/dmcn.14428DOI Listing
September 2020

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

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

Nat Commun 2019 10 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

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

Eur J Med Genet 2020 Apr 23;63(4):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
April 2020

Cognitive processes predicting advanced theory of mind in the broader autism phenotype.

Autism Res 2020 Jun 30;13(6):921-934. Epub 2019 Sep 30.

Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/aur.2209DOI Listing
June 2020

Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures.

Neurology 2019 09 28;93(12):e1212-e1226. Epub 2019 Aug 28.

From the First Department of Pediatrics (V.F.), Semmelweis University, Budapest, Hungary; Department of Developmental Neurology (B.S.), Poznań University of Medical Sciences, Poland; PANDA Neurology (J.R.F.), Atlanta, GA; UCB Pharma (Y.Z., N.Y., A.B., T.D.), Raleigh, NC; UCB Pharma (S.B.), Slough, UK; UCB Pharma (P.M.), Braine-l'Alleud, Belgium; Evidence Scientific Solutions (H.C.C.), Horsham, UK; UCB Pharma (S.D.), Brussels, Belgium; and Austin Health (I.E.S.), Florey and Murdoch Children's Research Institute, University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000008126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6808531PMC
September 2019

Fragile Females: Case Series of Epilepsy in Girls With Disruption.

Pediatrics 2019 09 22;144(3). Epub 2019 Aug 22.

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

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http://dx.doi.org/10.1542/peds.2019-0599DOI Listing
September 2019

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Stem Cell Res 2019 08 1;39:101516. Epub 2019 Aug 1.

Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101516DOI Listing
August 2019

Molecular epidemiology of monogenic epilepsies answers key clinical questions.

Brain 2019 08;142(8):2173-2175

University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1093/brain/awz208DOI Listing
August 2019

Looking to the Future: Speech, Language, and Academic Outcomes in an Adolescent with Childhood Apraxia of Speech.

Folia Phoniatr Logop 2019 22;71(5-6):203-215. Epub 2019 Jul 22.

Department of Paediatrics, The University of Melbourne, The Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1159/000500554DOI Listing
May 2020

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

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

Epilepsy Res 2019 09 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

Double somatic mosaicism in a child with Dravet syndrome.

Neurol Genet 2019 Jun 19;5(3):e333. Epub 2019 Apr 19.

Division of Genetic Medicine (A.M.M., A.S.B., H.C.M.), Department of Pediatrics, University of Washington, Seattle, WA; Department of Paediatrics and Child Health (C.K.), University of Otago, Wellington, New Zealand; Department of Medicine (A.L.S., I.E.S.), Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Australia; The Florey Institute and Murdoch Children's Research Institute (I.E.S.), Parkville, Australia; Department of Neurology (I.E.S.), Royal Children's Hospital, Parkville, Australia; and Department of Paediatrics and Child Health (L.G.S.), University of Otago, Wellington, New Zealand.

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http://dx.doi.org/10.1212/NXG.0000000000000333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481227PMC
June 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy.

Epilepsia 2019 03 3;60(3):429-440. Epub 2019 Mar 3.

Division of Neurology, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1111/epi.14678
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http://dx.doi.org/10.1111/epi.14678DOI Listing
March 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Speech and language in bilateral perisylvian polymicrogyria: a systematic review.

Dev Med Child Neurol 2019 10 25;61(10):1145-1152. Epub 2019 Jan 25.

Murdoch Children's Research Institute, Parkville, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/dmcn.14153DOI Listing
October 2019

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

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

Efficacy of cannabinoids in paediatric epilepsy.

Dev Med Child Neurol 2019 01 6;61(1):13-18. Epub 2018 Nov 6.

Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand.

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https://onlinelibrary.wiley.com/doi/abs/10.1111/dmcn.14087
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http://dx.doi.org/10.1111/dmcn.14087DOI Listing
January 2019

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study.

J Clin Sleep Med 2018 10 15;14(10):1697-1704. Epub 2018 Oct 15.

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

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http://jcsm.aasm.org/
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https://www.researchgate.net/scientific-contributions/395770
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http://dx.doi.org/10.5664/jcsm.7376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175806PMC
October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

Pediatr Neurol 2018 10 7;87:48-56. Epub 2018 May 7.

Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.04.012DOI Listing
October 2018

The phenotype of developmental and epileptic encephalopathy.

Neurology 2018 09 31;91(12):e1112-e1124. Epub 2018 Aug 31.

From the Department of Clinical Neurophysiology (E.G., S.B.), Danish Epilepsy Centre, Dianalund; Institute for Regional Health Services (E.G., K.M.J., R.S.M.), University of Southern Denmark, Odense, Denmark; Neuroscience Department (C.M., R.G., M.M.), Children's Hospital A. Meyer, University of Florence; Department of Neuroscience (M.T., N.S., F.V.), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Division of Neurology (M.P.F., I.H.), The Children's Hospital of Philadelphia; Departments of Pediatrics and Neurology (M.P.F., I.H.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia; Universitätskinderklinik Tübingen (M.A., M.W.), Germany; Department of Neurology (K.H.), Royal Children's Hospital Melbourne; Department of Paediatrics (K.H.), University of Melbourne; Australia Neurosciences Group (K.H.), Murdoch Children's Research Institute, Melbourne, Australia; Servizio di Neuropsichiatria Infantile (F.D., E.F.), Policlinico G.B. Rossi, Universita Degli Studi di Verona; Department of Child Neurology (S.S., G.A.), Ospedale Pediatrico G. Salesi-Ospedali Riuniti, Ancona, Italy; Division of Clinical Neurophysiology (B.B.), Children's Research Center, University Children's Hospital Zurich, Switzerland; Brain and Behaviour Department (S.M.), University of Pavia; Department of Pediatric Neuroradiology (A.P.), IRCCS "C. Mondino" National Neurological Institute, Pavia, Italy; Department of Epilepsy Genetics (K.J., R.S.M.), Danish Epilepsy Centre Dianalund; Department of Child Neurology (B.J.), Danish Epilepsy Centre, Dianalund, Denmark; Cytogenetic and Molecular Genetic Laboratory (S.R., F.C.), Istituto Auxologico Italiano, IRCCS, Milano, Italy; Department of Adult Neurology (G.R.), Danish Epilepsy Centre, Dianalund; University of Copenhagen (G.R.), Denmark; Struttura Complessa di Neurologia Pediatrica Ospedale Vittore Buzzi (P.V.), Milano; Dipartimento di Scienze Biomediche e Cliniche L. Sacco (P.V.), Università di Milano, Italy; Århus University (S.B.), Denmark; Department of Child Neurology (I.E.S.), University of Melbourne, Austin Health, Florey Institute; and Department of Child Neurology (I.E.S.), The Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000006199DOI Listing
September 2018

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

Therapeutic use of medicinal cannabis in difficult to manage epilepsy.

Br J Clin Pharmacol 2018 11 5;84(11):2488-2490. Epub 2018 Sep 5.

University of Melbourne, Austin Health and Royal Children's Hospital, Florey Institute, Melbourne, Australia.

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http://dx.doi.org/10.1111/bcp.13711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177700PMC
November 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

Enhanced Sensitivity to Angry Voices in People with Features of the Broader Autism Phenotype.

J Autism Dev Disord 2018 Nov;48(11):3899-3911

Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, VIC, 3010, Australia.

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http://dx.doi.org/10.1007/s10803-018-3641-7DOI Listing
November 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.

Epilepsia 2018 07 6;59(7):1372-1380. Epub 2018 Jun 6.

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.14438DOI Listing
July 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004444PMC
June 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

Epilepsy.

Nat Rev Dis Primers 2018 05 3;4:18024. Epub 2018 May 3.

Department of Neuroscience, Central Clinical School, Monash University, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1038/nrdp.2018.24DOI Listing
May 2018

Early mortality in SCN8A-related epilepsies.

Epilepsy Res 2018 07 13;143:79-81. Epub 2018 Apr 13.

The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; University of Copenhagen, Copenhagen, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2018.04.008DOI Listing
July 2018

The management of epilepsy in children and adults.

Med J Aust 2018 03;208(5):226-233

Royal Adelaide Hospital, Adelaide, SA.

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March 2018