Article
Phenotypic diversity in NAXE mutations.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2025
Solmaz Ismail, Yalnızoğlu Dilek, Dursun Ali, Çıkı Kısmet, Akar Halil Tuna, Özgül Rıza Köksal, Koşukçu Can, Sezer Abdullah, Çağdaş Deniz, Esenboğa Saliha, Özbek Begüm, Aygün Damla, Yılmaz Didem Yücel, Parlak Şafak, Göçmen Rahşan, Oğuz Kader Karlı, Anlar Banu
Abstract excerpt
BACKGROUND/AIM: NAD(P)HX epimerase (NAXE) gene mutations have been associated with early onset progressive encephalopathy. We present three patients with NAXE gene mutations and different initial manifestations. CASES: Patient(P)1 was a 30 month-old boy whose neurological regression started after an infection and progressed, ultimately leading to death one year later. His brain magnetic resonance imaging (MRI)...
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