Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results

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 greatly. Genetic testing with epilepsy gene panels is now done quite early in the evaluation of children with epilepsy, following brain imaging, electroencephalogram (EEG), and metabolic profile.

Source: Seminars in Pediatric Neurology - August 16, 2017 Category: Neurology Authors: Brittany Gerald, Keri Ramsey, Newell Belnap, Szabolcs Szelinger, Ashley L. Siniard, Chris Balak, Megan Russell, Ryan Richholt, Matt De Both, Ana M. Claasen, Isabelle Schrauwen, Matthew J. Huentelman, David W. Craig, Sampathkumar Rangasamy, Vinodh Narayana Source Type: research