De Novo Mutations in YWHAG Cause Early-Onset Epilepsy - Guella, Ilaria; McKenzie, Marna B.; Evans, Daniel M.; Buerki, Sarah E.; Toyota, Eric B.; Van Allen, Margot I.; Adam, Shelin; Boelman, Cyrus; Bolbocean, Corneliu; Candido, Tara; Eydoux, Patrice; Horvath, Gabriella; et al. (American journal of human genetics, 2017)
Keywords: 14-3-3 Proteins - genetics; Adolescent; Adult; Amino Acid Sequence; Child; de novo variants; epileptic encephalopathy; Exome - genetics; Female; Genetic Predisposition to Disease; Genotype; Glutamate Plasma Membrane Transport Proteins - genetics; High-Throughput Nucleotide Sequencing; Human health and pathology; Humans; Infant; Life Sciences; Male; Phenotype; SLC1A2; Spasms, Infantile - genetics; whole-exome sequencing; Young Adult; YWHAG; de novo variants; SLC1A2; whole-exome sequencing; epileptic encephalopathy; YWHAG