Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features

Celik S. Y., Bebek N., Gurses C., Baykan B., Gokyigit A.

EPILEPSY & BEHAVIOR, cilt.82, ss.46-51, 2018 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 82
  • Basım Tarihi: 2018
  • Doi Numarası: 10.1016/j.yebeh.2018.02.024
  • Dergi Adı: EPILEPSY & BEHAVIOR
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.46-51
  • Anahtar Kelimeler: Photosensitivity, Reflex seizures, Phenylketonuria, EEG, SEIZURES
  • İstanbul Üniversitesi Adresli: Evet

Özet

Objective: Phenyl ketonuria (PKU) is the most common form of amino acid metabolism disorders with autosomal recessive inheritance. The brain damage can be prevented by early diagnosis and a phenylalanine-restricted diet. Untreated or late-treated patients may show mental retardation and other cognitive dysfunctions, as well as motor disability and/or epilepsy.