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...

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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2025-08-01
Serie:	Frontiers in Medicine
Soggetti:	neuronal ceroid lipofuscinosis epilepsy CLN5 neurodegenerative disease next-generation sequencing
Accesso online:	https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full
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