Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies

Epileptic encephalopathies comprise a group of catastrophic epilepsies with heterogeneous genetic etiology. Although next-generation sequencing techniques can reveal a number of de novo variants in epileptic encephalopathies, evaluating the pathogenicity of these variants can be challenging. Determi...

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Veröffentlicht in:	Genetics in medicine 2019-01, Vol.21 (1), p.17-27
Hauptverfasser:	He, Na, Lin, Zhi-Jian, Wang, Jie, Wei, Feng, Meng, Heng, Liu, Xiao-Rong, Chen, Qian, Su, Tao, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedicine de novo variant Epilepsy epileptic encephalopathy Genetic Association Studies Genetic Predisposition to Disease Genetic Variation - genetics Genotype Genotype & phenotype High-Throughput Nucleotide Sequencing Human Genetics Humans Laboratory Medicine Mutation next generation sequencing pathogenicity Phenotype Review Review Article Spasms, Infantile - genetics Spasms, Infantile - pathology
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