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

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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) identifier identifier identifier

  • 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
  • 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.