Spectrum of K V 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.

Autor: Kang SK; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., Vanoye CG; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., Misra SN; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Echevarria DM; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., Calhoun JD; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., O'Connor JB; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Fabre KL; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., McKnight D; GeneDX, Gaithersburg, MD., Demmer L; Department of Pediatrics, Atrium Health's Levine Children's Hospital, Charlotte, NC., Goldenberg P; Medical Genetics, Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA., Grote LE; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO.; University of Missouri-Kansas City School of Medicine, Kansas City, MO., Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Saunders C; University of Missouri-Kansas City School of Medicine, Kansas City, MO.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Strauss KA; Clinic for Special Children, Strasburg, PA., Torkamani A; Scripps Translational Science Institute and Scripps Research Institute, La Jolla, CA., van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., van Gassen K; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Carson RP; Monroe Carell Jr Children's Hospital at Vanderbilt, Nashville, TN., Diaz J; Rare Disease Institute, Children's National Medical Center, Washington, DC., Leon E; Rare Disease Institute, Children's National Medical Center, Washington, DC., Jacher JE; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI., Litwin J; University of California, San Francisco Benioff Children's Hospital, San Francisco, CA., Friedman NR; Cleveland Clinic Children's, Cleveland, OH., Schreiber A; Cleveland Clinic Children's, Cleveland, OH., Lynch B; Department of Paediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland., Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA., Marsh ED; Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Goldberg EM; Division of Child Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Millichap JJ; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL.; Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., George AL Jr; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL., Kearney JA; Departments of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.

Publikováno v: Annals of neurology [Ann Neurol] 2019 Dec; Vol. 86 (6), pp. 899-912. Date of Electronic Publication: 2019 Oct 24.