Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel


Arslan E. A. , Oncel I., Ceylan A. C. , TOPÇU M., Topaloglu H.

BRAIN & DEVELOPMENT, vol.42, no.1, pp.6-18, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 42 Issue: 1
  • Publication Date: 2020
  • Doi Number: 10.1016/j.braindev.2019.08.004
  • Journal Name: BRAIN & DEVELOPMENT
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
  • Page Numbers: pp.6-18
  • Hacettepe University Affiliated: Yes

Abstract

Background: The purpose of this prospective study was to identify the characteristics of pediatric recessive ataxias and the mutations leading to them.