Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A

Özkara Ç., Gündüz A., COŞKUN T., Alpaslan B. G., ZEYDAN B., DELIL S., ...More

EPILEPTIC DISORDERS, vol.19, no.2, pp.147-151, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 2
  • Publication Date: 2017
  • Doi Number: 10.1684/epd.2017.0911
  • Journal Name: EPILEPTIC DISORDERS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.147-151
  • Keywords: neuronal ceroid lipofuscinosis, electrophysiology, clinical course, CLN6, TRANSMEMBRANE PROTEIN, DISEASE, CLN6, MUTATIONS, PIRACETAM, SEIZURES
  • Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

Aim. Reports on the clinical presentation of adult-onset neuronal ceroid lipofuscinoses (NCL) are scarce compared to infantile-and childhood-onset forms. Here, we aimed to present detailed temporal evolution of clinical and electrophysiological features of two siblings with adult-onset NCL and homozygous mutation in the CLN6 gene.