PP01.2 – 2772: Whole exome sequencing in 41 cases of early-onset epileptic encephalopathy

• Published in: European journal of paediatric neurology Vol. 19; p. S29
• Main Authors: Macaya, A., Marcé-Grau, A., Cuenca-León, E., Felipe-Rucián, A., López-Pisón, F.J., Raspall-Chaure, M.
• Format: Journal Article
• Language: English
• Published: Elsevier Ltd 01.05.2015
• Subjects: Neurology; Pediatrics

To use whole exome sequencing (WES) to investigate the genetic cause in a cohort of infants with early-onset epileptic encephalopathy (EOEE). Subjects: 41 trios from tertiary hospital setting. All probands were unrelated, had severe neurodevelopmental disorders and seizure onset within first year of...