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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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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
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2025-08-01
coleção:Frontiers in Medicine
Assuntos:
neuronal ceroid lipofuscinosis
epilepsy
CLN5
neurodegenerative disease
next-generation sequencing
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full
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