Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies


Paketci C., Karakaya M., Edem P., Bayram E., Keller N., Daimagueler H., ...More

REVUE NEUROLOGIQUE, vol.176, no.10, pp.846-855, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 176 Issue: 10
  • Publication Date: 2020
  • Doi Number: 10.1016/j.neurol.2020.04.016
  • Journal Name: REVUE NEUROLOGIQUE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Psycinfo
  • Page Numbers: pp.846-855
  • Keywords: Charcot-Marie-Tooth disease:, Genetic testing: Inherited polyneuropathy: Nerve conduction study, Neurometabolic, NEUROPATHIES
  • Dokuz Eylül University Affiliated: Yes

Abstract

Background. - Hereditary polyneuropathies are heterogeneous group of diseases of the peripheral nervous system. In this study, we investigated the demographic, clinical, electrophysiological, and genetic characteristics of hereditary polyneuropathy patients diagnosed and followed up in our tertiary center clinic in Izmir, Turkey.