相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。TMEM151A variants cause paroxysmal kinesigenic dyskinesia
Hong-Fu Li et al.
CELL DISCOVERY (2021)
16P11.2 Copy Number Variations and Neurodevelopmental Disorders
Benjamin Rein et al.
TRENDS IN NEUROSCIENCES (2020)
PRRT2-related phenotypes in patients with a 16p11.2 deletion
Danique R. M. Vlaskamp et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2019)
Paroxysmal movement disorders - practical update on diagnosis and management
Claudio M. De Gusmao et al.
EXPERT REVIEW OF NEUROTHERAPEUTICS (2019)
16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability
Wen Li et al.
BRAIN AND BEHAVIOR (2018)
The evolving spectrum of PRRT2-associated paroxysmal diseases
Darius Ebrahimi-Fakhari et al.
BRAIN (2015)
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
Laura Silveira-Moriyama et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2013)
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome
Axel Weber et al.
NEUROGENETICS (2013)
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Flore Zufferey et al.
JOURNAL OF MEDICAL GENETICS (2012)
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
Wan-Jin Chen et al.
NATURE GENETICS (2011)
INFANTILE CONVULSIONS AND PAROXYSMAL KINESIGENIC DYSKINESIA WITH 16p11.2 MICRODELETION
Russell C. Dale et al.
NEUROLOGY (2011)
16p11.2-RELATED PAROXYSMAL KINESIGENIC DYSKINESIA AND DOPA-RESPONSIVE PARKINSONISM IN A CHILD
Jonathan Lipton et al.
NEUROLOGY (2009)