부산대학교 도서관

Fuerte, EPA; Nguyen, J; Mehaffey, M; Sulovari, A; Wang, TY; Galey, M; Miller, DE; Eichler, EE; Mefford, HC; Khalil, BA; Afawi, ZA; Allen, AS; Amrom, D; Andermann, E; Bautista, JF; Bellows, ST; Berkovic, SF; Bluvstein, J; Boro, A; Burgess, R; Cascino, GD; Chung, SK; Consalvo, D; Cossette, P; Crompton, DE; Crumrine, P; Curtis, SW; Delanty, N; Devinsky, O; Dlugos, D; Ellis, CA; Epstein, MP; Fiol, M; Fountain, NB; Freyer, C; Friedman, D; Geller, EB; Glauser, T; Glynn, S; Goldstein, DB; Gravel, M; Haas, K; Harris, RV; Haut, S; Heinzen, EL; Helmers, S; Henry, OJ; Joshi, S; Kirsch, HE; Kivity, S; Knowlton, RC; Kossoff, E; Kuzniecky, R; Loeb, R; Lowenstein, DH; Marson, AG; McCormack, M; McGuire, SM; McKenna, K; Motika, PV; Mullen, SA; Novotny, EJ; O'Brien, TJ; Oliver, KL; Ottman, R; Paolicchi, JM; Parent, JM; Park, KL; Paterson, SJ; Petrovski, S; Pickrell, WO; Poduri, A; Rees, MI; Sadleir, LG; Scheffer, IE; Shellhaas, RA; Sherr, EH; Shih, JJ; Shinnar, S; Singh, RK; Sirven, J; Smith, MC; Smith, PEM; Sperling, MR; Sullivan, J; Thio, LL; Thomas, RH; Venkat, A; Vining, EPG; Von Allmen, GK; Weisenberg, J; Widdess-Walsh, P; Winawer, MR

Epilepsia. 65(3):792-804

Perucca, P; Anderson, A; Jazayeri, D; Hitchcock, A; Graham, J; Todaro, M; Tomson, T; Battino, D; Perucca, E; Ferri, MM; Rochtus, A; Lagae, L; Canevini, MP; Zambrelli, E; Campbell, E; Koeleman, BPC; Scheffer, IE; Berkovic, SF; Kwan, P; Sisodiya, SM; Goldstein, DB; Petrovski, S; Craig, J; Vajda, FJE; O'Brien, TJ

Annals of neurology. 87(6):897-906

American Medical Association (Chicago, Illinois) 12/14/2022; v.5 n.12, e2249107-e2249107. (1p)

American Medical Association (Chicago, Illinois) 8/3/2022; v.5 n.8, e2228862-e2228862. (1p)

Yeom, D; Tan, YT; Haslam, N; Mosing, MA; Yap, VMZ; Fraser, T; Hildebrand, MS; Berkovic, SF; McPherson, GE; Peretz, I; Wilson, SJ

iScience. 25(6):104360

Heron, SE; Grinton, BE; Kivity, S; Afawi, Z; Zuberi, SM; Hughes, JN; Pridmore, C; Hodgson, BL; Iona, X; Sadleir, LG; Pelekanos, J; Herlenius, E; Goldberg-Stern, H; Bassan, H; Haan, E; Korczyn, AD; Gardner, AE; Corbett, MA; Gecz, J; Thomas, PQ; Mulley, JC; Berkovic, SF; Scheffer, IE; Dibbens, LM

American journal of human genetics. 90(1):152-160

Ellis CA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; Harris RV; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Ottman R; Departments of Neurology and Epidemiology, and the Gertrude H. Sergievsky Center, Columbia University Irving Medical Center, New York, NY 10032, USA; Division of Translational Epidemiology and Mental Health Equity, New York State Psychiatric Institute, New York, NY 10032, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, VIC 3052, Australia; The Florey Institute and Murdoch Children's Research Institute, Parkville, VIC 3052, Australia.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.; Epstein MP; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30307, USA.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.; Bahlo M; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia. Electronic address: bahlo@wehi.edu.au.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

LaFlamme CW; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Graduate School of Biomedical Sciences, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Rastin C; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.; Sengupta S; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Pennington HE; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Mathematics & Statistics, Rhodes College, Memphis, TN, 38112, USA.; Russ-Hall SJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Bonkowski ES; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Almanza Fuerte EP; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Allan TJ; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Zalusky MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, 98195, USA.; Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Lieffering N; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Hebbar M; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Walker EV; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA.; Darnell D; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA.; Olsen SR; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA.; Kolekar P; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Djekidel MN; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Rosikiewicz W; Center for Applied Bioinformatics, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada.; Lev D; Institute of Medical Genetics, Wolfson Medical Center, Holon, 58100, Israel.; Lerman-Sagie T; Fetal Neurology Clinic, Pediatric Neurology Unit, Wolfson Medical Center, Holon, 58100, Israel.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, CO, 80045, USA.; Alders M; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, Meibergdreef 9, Amsterdam, Netherlands.; Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Chatron N; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; Demain L; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Genevieve D; Montpellier University, Inserm Unit 1183, Reference Center for Rare Diseases Developmental Anomaly and Malformative Syndrome, Clinical Genetic Department, CHU Montpellier, Montpellier, France.; Lesca G; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Sanlaville D; Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM, U1315, Lyon, France.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Gupta S; TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Genetic Department, Houston, TX, 77030, USA.; Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77030, USA.; Neale G; Hartwell Center for Bioinformatics and Biotechnology, St. Jude Children's Research Hospital Memphis, Memphis, TN, 38105, USA.; Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Wang Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, 6242, New Zealand.; Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, 98195, USA.; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, 98195, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Sadikovic B; Department of Pathology & Laboratory Medicine, Western University, London, ON, N5A 3K7, Canada. Bekim.Sadikovic@lhsc.on.ca.; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, N6A 5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Mefford HC; Center for Pediatric Neurological Disease Research, Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA. Heather.Mefford@stjude.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Viswanathan S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Hospital Pulau Pinang, George Town, Malaysia.; Oliver KL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Population Health and Immunity Division, the Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, the University of Melbourne, Melbourne, Australia.; Regan BM; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Myers CT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.; Mehaffey MG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; LaCroix AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Antony J; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Webster R; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Cardamone M; Department of Paediatric Neurology, Sydney Children's Hospital, Randwick; School of Clinical Medicine, UNSW Sydney, Sydney, Australia.; Subramanian GM; Department of Paediatric Neurology, John Hunter Children's Hospital, New Lambton Heights, Australia.; Chiu ATG; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Roza E; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania.; Teleanu RI; Faculty of Medicine, Clinical Neurosciences Department, Paediatric Neurology, Carol Davila University of Medicine and Pharmacy, București, Romania.; Pediatric Neurology Department, Dr. Victor Gomoiu Children's Hospital, București, Romania.; Malone S; Centre for Advanced Imaging, University of Queensland, St Lucia, Australia.; Neurosciences Department, Queensland Children's Hospital, South Brisbane, Australia.; Leventer RJ; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Gill D; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Kids Neuroscience Centre, Kids Research Institute, Sydney, Australia.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Goad BS; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Howell KB; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Symonds JD; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; Brunklaus A; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; Sadleir LG; Department of Paediatrics and Child Health, University of Otago Wellington, Wellington, New Zealand.; Zuberi SM; School of Health and Wellbeing, University of Glasgow, Glasgow, UK.; The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.; Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Centre for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Neurology, Royal Children's Hospital, University of Melbourne, Melbourne, Australia.; Neuroscience Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; The Florey Institute of Neurosciences and Mental Health, Melbourne, Australia.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Wallis M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.; Bodek SD; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia. simon.bodek@austin.org.au.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia. simon.bodek@austin.org.au.; Munro J; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Rafehi H; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Bennett MF; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Ye Z; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Schneider A; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Gardiner F; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Valente G; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Murdoch E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Uebergang E; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Hunter J; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Stutterd C; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Huq A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetic Medicine Service, The Royal Melbourne Hospital, Melbourne, Australia.; Salmon L; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Genetics Service, Royal Prince Alfred Hospital, Melbourne, Australia.; Scheffer I; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Department of Paediatrics, Austin Health, Melbourne, Australia.; Eratne D; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Neuropsychiatry, The Royal Melbourne Hospital, Melbourne, Australia.; Meyn S; Centre for Human Genomics and Precision Medicine, University of Wisconsin-Madison, Madison, WI, USA.; Fong CY; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; John T; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Peter MacCallum Cancer Centre, Melbourne, Australia.; Mullen S; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; White SM; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Brown NJ; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; McGillivray G; Victorian Clinical Genetics Service, Melbourne, Australia.; Genetics Service, Mercy Hospital for Women, Melbourne, Australia.; Chen J; Neurology Service, Austin Health, Melbourne, Australia.; Richmond C; Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.; Hughes A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Krzesinski E; Monash Health Genetics Clinic, Melbourne, Australia.; Fennell A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Monash Health Genetics Clinic, Melbourne, Australia.; Chambers B; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Medicine, Dentistry and Health Science, The University of Melbourne, Parkville, Australia.; Santoreneos R; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Le Fevre A; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Hildebrand MS; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.; Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Australia.; Christodoulou J; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Delatycki M; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Victorian Clinical Genetics Service, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Parkville, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Australia.; Berkovic SF; Austin Health Clinical Genetics Service, Austin Health, Melbourne, Australia.; Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE