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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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Автори: 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
Формат: Artigo
Мова:Inglês
Опубліковано: Frontiers Media S.A. 2025-08-01
Серія:Frontiers in Medicine
Предмети:
neuronal ceroid lipofuscinosis
epilepsy
CLN5
neurodegenerative disease
next-generation sequencing
Онлайн доступ:https://www.frontiersin.org/articles/10.3389/fmed.2025.1581597/full
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