Neuronal ceroid lipofuscinosis type 5 in Russia: first case report and literature review

Neuronal ceroid lipofuscinosis (NCL) is one of the most common causes of childhood dementia. NCL type 5 is characterized by epileptic seizures, cognitive decline, and progressive vision loss. Whole exome sequencing was performed, and the identified variant was confirmed by Sanger sequencing. Despite...

Fuld beskrivelse

Bibliografiske detaljer

Principais autores:	Olga P. Parshina, Anastasiia A. Buianova, Svetlana V. Mikhaylova, Sergey V. Piliya, Alikhan A. Alikhanov, Elena K. Donyush, Zinaida A. Kondrashova, Nadezhda V. Liakhova, Oleg N. Suchalko, Alina F. Samitova, Anna O. Shmitko, Mayya V. Zazhivikhina, Natalya A. Votyakova, Dmitriy O. Korostin
Format:	Artigo
Sprog:	Inglês
Udgivet:	Frontiers Media S.A. 2025-08-01
Serier:	Frontiers in Medicine
Fag:	neuronal ceroid lipofuscinosis epilepsy CLN5 neurodegenerative disease next-generation sequencing
Online adgang:	https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full
Tags:	Tilføj Tag Ingen Tags, Vær først til at tagge denne postø!