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Xiao-Rong Liu

Guangzhou Medical University

17

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150

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Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.

2021 Epilepsy Research
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CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.

2021 CNS Neuroscience & Therapeutics
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UNC13B variants associated with partial epilepsy with favourable outcome.

2021 Brain
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TMEM151A Variants Cause Paroxysmal Kinesigenic Dyskinesia: A Large-Sample Study

2021 Movement Disorders
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GRIN2A Variants Associated With Idiopathic Generalized Epilepsies.

2021 Frontiers in Molecular Neuroscience
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Optimization of in silico tools for predicting genetic variants: individualizing for genes with molecular sub-regional stratification

2019 Briefings in Bioinformatics
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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients: Genotype and Phenotype of PRRT2-Negative PKD

2018 Movement Disorders
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Novel mutations and phenotypes of epilepsy‐associated genes in epileptic encephalopathies

2018 Genes, Brain and Behavior
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16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

2018 Brain and behavior
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ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation

2018 Neurogenetics
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Citations (19)