Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants

• Main Authors: Zhijie Gao (Author), Hua Xie (Author), Qian Jiang (Author), Nan Wu (Author), Xiaoli Chen (Author), Qian Chen (Author)
• Format: Book
• Published: BMC, 2018-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes h...