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., ...Daha Fazla

JAMA NEUROLOGY, cilt.74, sa.10, ss.1228-1236, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 74 Sayı: 10
Basım Tarihi: 2017
Doi Numarası: 10.1001/jamaneurol.2017.1714
Dergi Adı: JAMA NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1228-1236
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.