SCN8A Epilepsy, Developmental Encephalopathy, and Related Disorders.
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2021.06.011
Abstract: Understanding the precise genetic -basis of disease is one of the critical developments in medicine in the twenty-first century. Genetic testing has revolutionized the diagnosis and treatment of neurological diseases in children. Whole-genome and whole-exome… read more here.
Keywords: epileptic encephalopathy; developmental encephalopathy; scn8a epilepsy; encephalopathy ... See more keywords
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0739-5
Abstract: We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental… read more here.
Keywords: developmental delay; onset epilepsy; case; delay ... See more keywords