Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel, Carolien; Syrbe, Steffen; Brilstra, Eva; Verbeek, Nienke; Kerr, Bronwyn; Dubbs, Holly; Bayat, Allan; Desai, Sonal; Naidu, Sakkubai; Srivastava, Siddharth; Cagaylan, Hande; YİŞ, ULUÇ; Saunders, Carol; Rook, Martin; Plugge, Susanna; Muhle, Hiltrud; Afawi, Zaid; Klein, Karl-Martin; Jayaraman, Vijayakumar; Rajagopalan, Ramakrishnan; Goldberg, Ethan; Marsh, Eric; Kessler, Sudha; Bergqvist, Christina; Conlin, Laura; Krok, Bryan; Thiffault, Isabelle; Pendziwiat, Manuela; Helbig, Ingo; Polster, Tilman; Borggraefe, Ingo; Lemke, Johannes; van den Boogaardt, Marie-Jose; Moller, Rikke; Koeleman, Bobby

doi:10.1001/jamaneurol.2017.1714

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

de Kovel C. G. F., Syrbe S., Brilstra E. H., Verbeek N., Kerr B., Dubbs H., ...More

JAMA NEUROLOGY, vol.74, no.10, pp.1228-1236, 2017 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 74 Issue: 10
Publication Date: 2017
Doi Number: 10.1001/jamaneurol.2017.1714
Journal Name: JAMA NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.1228-1236
Open Archive Collection: AVESIS Open Access Collection
Dokuz Eylül University Affiliated: Yes

Abstract

IMPORTANCE Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients.