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

Autor: 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

Publikováno v: In Seminars in Pediatric Neurology July 2018 26:28-32

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.

Autor: Banuelos E; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Belnap N; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Krishnan M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Balak C; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Szelinger S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Siniard AL; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Russell M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Richholt R; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., De Both M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Piras I; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Naymik M; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Claasen AM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Rangasamy S; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Huentelman MJ; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Craig DW; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Campeau PM; Department of Pediatrics, CHU Sainte-Justine Research Center and University of Montreal, Montreal, QC, H3T 1C5, Canada., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Schrauwen I; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.; Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA.

Publikováno v: F1000Research [F1000Res] 2017 Apr 24; Vol. 6, pp. 553. Date of Electronic Publication: 2017 Apr 24 (Print Publication: 2017).