Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

Aksel Kilicarslan O., Ataman E., Gursoy S., Gurbuz G., Unalp A., Gencpinar P., ...Daha Fazla

TURKISH JOURNAL OF MEDICAL SCIENCES, cilt.50, sa.6, ss.1573-1579, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.3906/sag-1901-170
  • Dergi Adı: TURKISH JOURNAL OF MEDICAL SCIENCES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.1573-1579
  • Anahtar Kelimeler: Cortical dysplasia, tubulinopathies, TUBA1A, TUBB2B, TUBB3, MUTATIONS, FEATURES
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.