Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results-Reference-Cited by-同舟云学术

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

Published:2018-07 Issue: Volume:26 Page:28-32
ISSN:1071-9091
Container-title:Seminars in Pediatric Neurology
language:en
Short-container-title:Seminars in Pediatric Neurology

Author:

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

Publisher

Elsevier BV

Subject

Clinical Neurology,Pediatrics, Perinatology, and Child Health

Reference34 articles.

1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nat Genet,1999

2. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation;Tao;Am J Hum Genet,2004

3. FOXG1 is responsible for the congenital variant of Rett syndrome;Ariani;Am J Hum Genet,2008

4. Rett syndrome: Revised diagnostic criteria and nomenclature;Neul;Ann Neurol,2010

5. Clinical review of genetic epileptic encephalopathies;Noh;Eur J Med Genet,2012

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders;Cells;2023-05-21

2. Molecular and in silico analyses of SYN III gene variants in autism spectrum disorder;Irish Journal of Medical Science (1971 -);2023-05-11

3. GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey;Epilepsy & Behavior Reports;2023

4. A case report of precocious puberty related to Rett syndrome and a literature review;PHARMAZIE;2021

5. GNAO1 organizes the cytoskeletal remodeling and firing of developing neurons;The FASEB Journal;2020-10-27