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 the ATP6V1A gene cause developmental encephalopathy with epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Brain"
DOI: 10.1093/brain/awy092
Abstract: Using whole exome sequencing, Fassio et al. identify de novo mutations in ATP6V1A, encoding the A subunit of v-ATPase, in four patients with developmental encephalopathies and epilepsy. Functional and expression studies demonstrate impaired lysosomal homeostasis,… read more here.
Keywords: mutations atp6v1a; developmental encephalopathy; novo mutations; atp6v1a gene ... See more keywords