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., ...Daha Fazla

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

  • 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
  • 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.