Novel compound heterozygous P4HTM variants in a girl with developmental and epileptic encephalopathy: First case report of P4HTM variant-associated epileptic encephalopathy.

Alomarı O., Bebek O., Turkyilmaz A., Sager S. G.

Seizure, vol.124, pp.35-38, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 124
  • Publication Date: 2024
  • Doi Number: 10.1016/j.seizure.2024.11.009
  • Journal Name: Seizure
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, MEDLINE, Psycinfo
  • Page Numbers: pp.35-38
  • Karadeniz Technical University Affiliated: Yes