Article
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
Seminars in pediatric neurology - 1 Jul 2018
Gerald Brittany, Ramsey Keri, Belnap Newell, Szelinger Szabolcs, Siniard Ashley L, Balak Chris, Russell Megan, Richholt Ryan, De Both Matt, Claasen Ana M, Schrauwen Isabelle, Huentelman Matthew J, Craig David W, Rangasamy Sampathkumar, Narayanan Vinodh
Abstract excerpt
Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure type. Until recently, the cause of many epileptic encephalopathies was unknown. Whole exome or whole genome sequencing has led to the identification of several causal genes in individuals with epileptic encephalopathy, and the list of genes has now expanded...
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