부산대학교 도서관

Boeri S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. silviaboeri@gaslini.org.; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy. silviaboeri@gaslini.org.; Piai M; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Alari V; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Simonetta D; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Benke TA; Department of Pediatrics, Neurology and Pharmacology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO, 80045, USA.; Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.; Prato G; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.

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

Neul, Jeffrey L; Percy, Alan K; Benke, Timothy A; Berry-Kravis, Elizabeth M; Glaze, Daniel G; Peters, Sarika U; An, Di; Bishop, Kathie M; Youakim, James M

Future Rare Diseases; 2024, Vol. 4 Issue 1, p1-10, 10p

Karnstedt M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; McDaniels E; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Somorai M; Center for Rare Developmental Disorders, Technical University of Munich, kbo Children's Center Munich, Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine, and Social Pediatrics, Department of Pediatrics, University Hospital Munich, Munich, Germany.; Veenma DCM; Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, Edegem, Belgium.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Fantaneanu TA; Department of Medicine, Ottawa Hospital, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Park K; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, USA.; Chen W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, Georgia, USA.; Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA.; Benke TA; Departments of Pediatrics, Pharmacology, Neurology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Boulder, Colorado, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Raspa M; RTI International, 3040 East Cornwallis Road, Research Triangle Park, NC, 27708, USA. mraspa@rti.org.; Gwaltney A; RTI International, 3040 East Cornwallis Road, Research Triangle Park, NC, 27708, USA.; Bann C; RTI International, 3040 East Cornwallis Road, Research Triangle Park, NC, 27708, USA.; von Hehn J; Rett Syndrome Research Trust, Trumbull, USA.; Benke TA; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, USA.; Marsh ED; Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, USA.; Peters SU; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, USA.; Ananth A; University of Alabama at Birmingham, Birmingham, USA.; Percy AK; University of Alabama at Birmingham, Birmingham, USA.; Neul JL; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, USA. Jeffrey.l.neul@vumc.edu.

Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Neul JL; Vanderbilt University Medical Center.; Benke TA; Children's Hospital of Colorado and University of Colorado.; Marsh ED; University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia.; Peters SU; Vanderbilt University Medical Center.; Fu C; Vanderbilt University Medical Center.; Merritt JK; Vanderbilt University Medical Center.; Percy AK; University of Alabama at Birmingham.

Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE

Myers, Scott J; Yuan, Hongjie; Perszyk, Riley E; Zhang, Jing; Kim, Sukhan; Nocilla, Kelsey A; Allen, James P; Bain, Jennifer M; Lemke, Johannes R; Lal, Dennis; Benke, Timothy A; Traynelis, Stephen F

Human Molecular Genetics; 10/1/2023, Vol. 32 Issue 19, p2857-2871, 15p

Haviland I; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Hector RD; Simons Initiative for the Developing Brain & Patrick Wild Centre, Centre for Discovery Brain Sciences, University of Edinburgh, Edinburgh, UK.; Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Verran AS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Sherrill E; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Denny AM; Division of Pediatric Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada.; Lucash J; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Zhang B; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Dubbs HA; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Weisenberg JL; Department of Pediatric Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.; Leonard H; Telethon Kids Institute, The University of Western Australia, Perth, Western Australia, Australia.; Crippa M; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Cogliati F; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Russo S; Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Milan, Italy.; Suter B; Division of Child Neurology, Texas Children's Hospital, Departments of Neurology and Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Rajaraman R; Division of Pediatric Neurology, UCLA Mattel Children's Hospital, Los Angeles, California, USA.; Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Schreiber JM; Division of Epilepsy, Neurophysiology, and Critical Care Neurology, Children's National Hospital, Washington, DC, USA.; Demarest S; Department of Pediatrics and Neurology, Precision Medicine Institute, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.; Benke TA; Department of Pediatrics, Pharmacology and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, Colorado, USA.; Chopra M; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Yu TW; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Olson HE; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, Massachusetts, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Thompson T; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Accords, University of Colorado School of Medicine, Aurora, Colorado, USA.; Gurfinkel D; Accords, University of Colorado School of Medicine, Aurora, Colorado, USA.; Silveira L; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Klamut N; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Ferdinandsen K; Fu C; Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Ananth AL; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Lane JB; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Marsh ED; University of Pennsylvania Perelman School of Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Neul JL; Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, Tennessee, USA.; Percy AK; Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Benke TA; Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Pharmacology, University of Colorado School of Medicine, Aurora, Colorado, USA.; Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.; Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Benke TA; Department of Pediatrics, Neurology and Pharmacology, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.; Marsh ED; Department of Neurology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA 19104, USA.; Suter B; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Fu C; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Ryther RC; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Lieberman DN; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Feyma T; Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Beisang A; Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Heydemann P; Department of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA.; Peters SU; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Ananth A; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Saby JN; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mulcahey PJ; Duke University School of Medicine, Durham, NC, USA.; Benke TA; Department of Pediatrics, Neurology, Pharmacology, and Otolaryngology, School of Medicine and Children's Hospital Colorado, University of Colorado, Aurora, CO, USA.; Peters SU; Department of Pediatrics, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Standridge SM; Cincinnati Children's Hospital Medical Center, Division of Neurology and University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Lieberman DN; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Key AP; Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Nelson CA; Laboratories of Cognitive Neuroscience, Boston Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Roberts TPL; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Neul JL; Department of Pediatrics, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Neurology Department and Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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

Percy AK; University of Alabama at Birmingham, Heersink School of Medicine, Department of Pediatrics (Neurology) Birmingham, AL.; Neul JL; Vanderbilt Kennedy Center, Vanderbilt University Medical School and Vanderbilt University, Department of Pediatrics (Neurology), Nashville, TN.; Ananth A; University of Alabama at Birmingham, Heersink School of Medicine, Department of Pediatrics (Neurology) Birmingham, AL.; Benke TA; Children's Hospital of Colorado/University of Colorado School of Medicine, Department of Pediatrics (Neurology), Aurora, CO.; Marsh ED; University of Pennsylvania, Perelman School of Medicine, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.

Publisher: Wiley Periodicals LLC Country of Publication: United States NLM ID: 9918523088806676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2831-3267 (Electronic) Linking ISSN: 28313267 NLM ISO Abbreviation: Ann Child Neurol Soc

Percy AK; University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Ryther R; Washington University School of Medicine, St. Louis, MO 63110, USA.; Marsh ED; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Neul JL; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Benke TA; Children's Hospital of Colorado/University of Colorado School of Medicine, Aurora, CO 80045, USA.; Berry-Kravis EM; Rush University Children's Hospital, Chicago, IL 60612, USA.; Feyma T; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA.; Lieberman DN; Boston Children's Hospital, Boston, MA 02115, USA.; Ananth AL; University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Fu C; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Buhrfiend C; Rush University Medical Center, Chicago, IL 60612, USA.; Barrett A; RTI Health Solutions, Research Triangle Park, NC 27709, USA.; Doshi D; Acadia Pharmaceuticals, San Diego, CA 92130, USA.; Darwish M; Acadia Pharmaceuticals, San Diego, CA 92130, USA.; An D; Acadia Pharmaceuticals, San Diego, CA 92130, USA.; Bishop KM; Acadia Pharmaceuticals, San Diego, CA 92130, USA.; Youakim JM; Acadia Pharmaceuticals, San Diego, CA 92130, USA. Electronic address: jyouakim@ACADIA-pharm.com.

Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE

Olson, Heather E; Costantini, Julia G; Swanson, Lindsay C; Kaufmann, Walter E; Benke, Timothy A; Fulton, Anne B; Hansen, Ronald; Poduri, Annapurna; Heidary, Gena

Developmental Medicine & Child Neurology. Nov2021, Vol. 63 Issue 11, p1308-1315. 8p.

Daniels C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Greene C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Smith L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Pestana-Knight E; Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA.; Demarest S; Children's Hospital Colorado, Aurora, CO, USA.; Department of Pediatrics, University of Colorado, School of Medicine, Aurora, CO, USA.; Zhang B; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Benke TA; Children's Hospital Colorado, Aurora, CO, USA.; Department of Pediatrics, University of Colorado, School of Medicine, Aurora, CO, USA.; Department of Pharmacology, University of Colorado, School of Medicine, Aurora, CO, USA.; Department of Neurology, University of Colorado, School of Medicine, Aurora, CO, USA.; Department of Otolaryngology, University of Colorado, School of Medicine, Aurora, CO, USA.; Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Olson HE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Xu Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Neurology, The First Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, 325000, China.; Song R; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Neurology, Qilu Hospital of Shandong University, Jinan, Shandong, 250012, China.; Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Chen W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Psychiatry, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.; Kim S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, 30322, USA.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Allen JP; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Nocilla KA; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Zhang J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; XiangWei W; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Tankovic A; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; McDaniels ED; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Sheikh R; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Mizu RK; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Karamchandani MM; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Hu C; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Kusumoto H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Pecha J; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Via Pansini 5, 80131, Naples, Italy.; Department of Pediatrics-Neurology, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Gaitanis J; Hasbro Children's Hospital, The Warren Alpert Medical School of Brown University, Providence, RI, USA.; Sullivan J; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC, USA.; Petrovski S; Ce Department of Medicine, University of Melbourne, Austin Health, Melbourne, VIC, Australia.; Centre for Genomics Research, Discovery Sciences, AstraZeneca, BioPharmaceuticals R&D, Cambridge, UK.; Jauss RT; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Lee HK; Provincial Medical Genetics Program, Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, B.C, V6H 3N1, Canada.; Bozarth X; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Division of Pediatric Neurology, Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.; Lynch DR; Departments of Pediatrics and Neurology, Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, USA.; Helbig I; Division of Child Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Pierson TM; Department of Pediatrics and Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Center for the Undiagnosed Patient, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Boerkoel CF; Provincial Medical Genetics Program, Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, B.C, V6H 3N1, Canada.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, 30322, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Benke TA; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Center for Functional Evaluation of Rare Variants (CFERV), Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.

Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

XiangWei W; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Perszyk RE; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Liu N; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Xu Y; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Department of Neurology, The First Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China.; Bhattacharya S; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; School of Pharmaceutical and Health Sciences, Keck Graduate Institute, Claremont Colleges, Claremont, CA, 91711, USA.; Shaulsky GH; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.; Fatemi A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.; Fry AE; Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.; Division of Cancer and Genetics, Cardiff University, Cardiff, CF14 4XN, UK.; Chandler K; Manchester Centre for Genomic Medicine (MCGM), Manchester University NHS Foundation Trust, Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.; Wang T; Department of Pediatrics, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK.; Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.; Paciorkowski AR; University of Rochester Medical Center, Child Neurology, 601 Elmwood Ave., Rochester, NY, 14642, USA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Zhang Y; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Wang S; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China.; Wang Y; Department of Neurology, Center of Epilepsy, Beijing Key Laboratory of Neuromodulation, Institute of Sleep and Consciousness Disorders, Beijing Institute for Brain Disorders, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.; Zhai Q; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China.; Fang F; Department of Neurology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, 100069, China.; Leng J; Department Neurology, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450066, Henan, China.; Department of Endocrinology, Genetics and Metabolism, School of Medicine, Chengdu Women's and Children's Central Hospital, University of Electronic Science and Technology of China, Sichuan, 611731, China.; Garber K; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Myers SJ; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Jauss RT; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Park KL; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Benke TA; Departments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.; Yuan H; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. hyuan@emory.edu.; Jiang Y; Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, China. jiangyuwu@bjmu.edu.cn.; Traynelis SF; Department of Pharmacology and Chemical Biology, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Center for Functional Evaluation of Rare Variants, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.; Emory Neurodegenerative Disease Center, Emory University School of Medicine, Atlanta, GA, 30322, USA. strayne@emory.edu.

Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA. jeffrey.l.neul@vanderbilt.edu.; Benke TA; University of Colorado School of Medicine/Children's Hospital Colorado, Aurora, CO, USA.; Marsh ED; Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Suter B; Baylor College of Medicine, Houston, TX, USA.; Silveira L; University of Colorado School of Medicine/Children's Hospital Colorado, Aurora, CO, USA.; Fu C; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Peters SU; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Percy AK; University of Alabama at Birmingham, Birmingham, AL, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Saby JN; Division of Radiology Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Peters SU; Department of Pediatrics, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Benke TA; Department of Pediatrics, Neurology,, Pharmacology and Otolaryngology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.; Standridge SM; Division of Neurology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, , USA.; Swanson LC; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Lieberman DN; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Olson HE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Key AP; Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Percy AK; Department of Pediatrics (Neurology), University of Alabama at Birmingham, Birmingham, AL, USA.; Neul JL; Department of Pediatrics, Vanderbilt University Medical Center, Vanderbilt Kennedy Center, Nashville, TN, USA.; Nelson CA; Laboratories of Cognitive Neuroscience, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Graduate School of Education, Harvard University, Cambridge, MA, USA.; Roberts TPL; Division of Radiology Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Abramson Research Building- Room 502E, 3615 Civic Center Boulevard, Philadelphia, PA, 19104, USA. marshe@chop.edu.; Orphan Disease Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. marshe@chop.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA.; Benke TA; Department of Pediatrics, Children's Hospital of Colorado/University of Colorado School of Medicine, Aurora, CO, USA.; Berry-Kravis EM; Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, IL, USA.; Glaze DG; Department of Pediatrics and Neurology, Texas Children's Hospital/Baylor College of Medicine, Houston, TX, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Departments of Neurology and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Barrett AM; Patient-Centered Outcomes Assessment, RTI Health Solutions, Research Triangle Park, NC, USA.; An D; Acadia Pharmaceuticals, Inc., San Diego, CA, USA.; Bishop KM; Acadia Pharmaceuticals, Inc., San Diego, CA, USA.; Youakim JM; Acadia Pharmaceuticals, Inc., San Diego, CA, USA. Electronic address: jyouakim@acadia-pharm.com.

Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE

Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35233, USA.; Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Benke TA; Department of Pediatrics, Children's Hospital of Colorado/University of Colorado School of Medicine, Aurora, CO 80045, USA.; Berry-Kravis EM; Departments of Pediatrics, Neurological Sciences and Biochemistry, Rush University Medical Center, Chicago, IL 60612, USA.; Glaze DG; Department of Pediatrics and Neurology, Texas Children's Hospital/Baylor College of Medicine, Houston, TX 77030, USA.; Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Departments of Neurology and Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; An D; Acadia Pharmaceuticals Inc., San Diego, CA 92130, USA.; Bishop KM; Acadia Pharmaceuticals Inc., San Diego, CA 92130, USA.; Youakim JM; Acadia Pharmaceuticals Inc., San Diego, CA 92130, USA. Electronic address: jyouakim@acadia-pharm.com.

Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med Subsets: MEDLINE