Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

CONCLUSIONS: The pathogenicity of eight uncertain significance variants needs further investigation. C-terminal of PRRT2 is crucial for its physiological function.
PMID: 31124310 [PubMed - as supplied by publisher]

Source: CNS Neuroscience and Therapeutics - May 22, 2019 Category: Neuroscience Authors: Zhao SY, Li LX, Chen YL, Chen YJ, Liu GL, Dong HL, Chen DF, Li HF, Wu ZY Tags: CNS Neurosci Ther Source Type: research