First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Künye
Ayaz, A., Doğru, Z., Kılıç, B. ve Süzek, B. E. (2022). First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype. Clinical Neurology and Neurosurgery, 221. https://doi.org/10.1016/j.clineuro.2022.107418Özet
Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were shared and the whole-exome-sequencing study of the index case was performed. It was confirmed by the Sanger method. We found the RANBP2 gene p.I656V variant homozygous in the index case. We found the variant in the parents as heterozygous. We argue that biallelic mutations in the RANBP2 gene may result in ANE with early onset and severe prognosis by increasing penetrance.
WoS Q Kategorisi
Q3Scopus Q Kategorisi
Q2Kaynak
Clinical Neurology and NeurosurgeryCilt
221Koleksiyonlar
- Makale Koleksiyonu [4]
- Makale Koleksiyonu [3790]
- PubMed İndeksli Yayınlar Koleksiyonu [4251]
- Scopus İndeksli Yayınlar Koleksiyonu [6601]
- WoS İndeksli Yayınlar Koleksiyonu [6677]