Article
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.
JAMA neurology - 1 Oct 2017
de Kovel Carolien G F, Syrbe Steffen, Brilstra Eva H, Verbeek Nienke, Kerr Bronwyn, Dubbs Holly, Bayat Allan, Desai Sonal, Naidu Sakkubai, Srivastava Siddharth, Cagaylan Hande, Yis Uluc, 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 K, Krok Bryan L, Thiffault Isabelle, Pendziwiat Manuela, Helbig Ingo, Polster Tilman, Borggraefe Ingo, Lemke Johannes R, van den Boogaardt Marie-José, Møller Rikke S, Koeleman Bobby P C
Abstract excerpt
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. Objectives: To investigate the clinical spectrum associated with KCNB1 variants and the genotype-phenotype correlations. Design, Setting, and Participants: This study...
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