Exome sequencing in paediatric patients with movement disorders.

doi:10.1186/s13023-021-01688-6

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Article

Exome sequencing in paediatric patients with movement disorders.

Orphanet journal of rare diseases - 15 Jan 2021

Kwong Anna Ka-Yee, Tsang Mandy Ho-Yin, Fung Jasmine Lee-Fong, Mak Christopher Chun-Yu, Chan Kate Lok-San, Rodenburg Richard J T, Lek Monkol, Huang Shushu, Pajusalu Sander, Yau Man-Mut, Tsoi Cheung, Fung Sharon, Liu Kam-Tim, Ma Che-Kwan, Wong Sheila, Yau Eric Kin-Cheong, Tai Shuk-Mui, Fung Eva Lai-Wah, Wu Nick Shun-Ping, Tsung Li-Yan, Smeitink Jan, Chung Brian Hon-Yin, Fung Cheuk-Wing

Abstract excerpt

BACKGROUND: Movement disorders are a group of heterogeneous neurological diseases including hyperkinetic disorders with unwanted excess movements and hypokinetic disorders with reduction in the degree of movements. The objective of our study is to investigate the genetic etiology of a cohort of paediatric patients with movement disorders by whole exome sequencing and to review the potential treatment implications...

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Identifiers

PMID: 33446253
DOI: 10.1186/s13023-021-01688-6
PMCID: PMC7809769

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