Article
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022
Wei Wen, Zheng Xiu-Fen, Ruan Dan-Dan, Gan Yu-Mian, Zhang Yan-Ping, Chen Ying, Lin Xin-Fu, Tang Fa-Qiang, Luo Jie-Wei, Li Yun-Fei
Abstract excerpt
BACKGROUND: The spectrum of neurological diseases related to ATP1A3 gene mutations is highly heterogeneous and exhibits different phenotypes. Phenotype overlaps, including alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy, and rapid-onset dystonia-parkinsonism (RDP), can also occur at extremely low incidences. Currently, over 90 types of pathogenic mutations have been identified...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.