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- Episodic ataxia in child with 16p11.2 deletion including PRRT2, Parkinsonism & Related Disorders, 118, (105955), (2024).https://doi.org/10.1016/j.parkreldis.2023.105955
- Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features, Neurology Genetics, 8, 2, (2022)./doi/10.1212/NXG.0000000000000659
- Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia, Journal of Neurology, 269, 9, (4717-4728), (2022).https://doi.org/10.1007/s00415-022-11103-0
- Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders, Advanced Genetics, 4, 2, (2022).https://doi.org/10.1002/ggn2.202200018
- The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures, European Journal of Paediatric Neurology, 24, (148-153), (2020).https://doi.org/10.1016/j.ejpn.2019.12.003
- PRRT2-related phenotypes in patients with a 16p11.2 deletion, European Journal of Medical Genetics, 62, 4, (265-269), (2019).https://doi.org/10.1016/j.ejmg.2018.08.002
- PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures, International Journal of Neuroscience, 128, 8, (751-760), (2018).https://doi.org/10.1080/00207454.2017.1418345
- Benign nocturnal alternating hemiplegia of childhood: A clinical and nomenclatural reappraisal, European Journal of Paediatric Neurology, 22, 6, (1110-1117), (2018).https://doi.org/10.1016/j.ejpn.2018.07.012
- 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability, Brain and Behavior, 8, 11, (2018).https://doi.org/10.1002/brb3.1134
- Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion, Epileptic Disorders, 19, 2, (222-225), (2017).https://doi.org/10.1684/epd.2017.0909
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