Phenotypes of GNAO1 Variants in a Chinese Cohort.

Frontiers in Neurology
Xiaoling YangYuehua Zhang

Abstract

This study aimed to analyze the genotypes and phenotypes of GNAO1 variants in a Chinese cohort. Seven male and four female patients with GNAO1 variants were enrolled, including siblings of brothers. Ten different GNAO1 variants (nine missense and one splicing site) were identified, among which six were novel. All the variants were confirmed to be de novo in peripheral blood DNA. Eight (73%, 8/11) patients had epilepsy; the seizure onset age ranged from 6 h after birth to 4 months (median age, 2.5 months). Focal seizures were observed in all eight patients, epileptic spasms occurred in six (75%, 6/8), tonic spasm in four (50%, 4/8), tonic seizures in two, atypical absence in one, and generalized tonic-clonic seizures in one. Seven patients had multiple seizure types. Eight (73%, 8/11) patients had movement disorders, seven of them having only dystonia, and one having dystonia with choreoathetosis. Varying degrees of developmental delay (DD) were present in all 11 patients. The phenotypes were diagnosed as early infantile epileptic encephalopathy (EIEE) in two (18%) patients, which were further diagnosed as West syndrome. Movement disorders (MD) with developmental delay were diagnosed in two (18%) brothers. EIEE and MD were overl...Continue Reading

References

Apr 18, 1998·Proceedings of the National Academy of Sciences of the United States of America·M JiangL Birnbaumer
Feb 15, 2011·Oncogene·M Garcia-MarcosM G Farquhar
May 15, 2015·European Journal of Human Genetics : EJHG·Hirotomo SaitsuNaomichi Matsumoto
Jun 19, 2015·Neurology·Niccolo E MencacciKailash P Bhatia
Apr 9, 2016·American Journal of Human Genetics·Christine P DiggleNicholas J Brandon
Apr 14, 2016·Pediatric Neurology·Amitha L AnanthJonathan A Bernstein
Apr 14, 2016·Orphanet Journal of Rare Diseases·Anna Marcé-GrauAlfons Macaya
Dec 6, 2016·Brain & Development·Saori SakamotoTakanori Yamagata
Feb 17, 2017·Epileptic Disorders : International Epilepsy Journal with Videotape·Ravindra AryaKatherine D Holland
Jun 20, 2017·Neuropediatrics·David C SchorlingJanbernd Kirschner
May 15, 2018·Neurobiology of Disease·Huijie FengChristos Sidiropoulos
Jan 16, 2019·Parkinsonism & Related Disorders·Tommaso SchirinziVincenzo Leuzzi
Dec 11, 2020·Orphanet Journal of Rare Diseases·Soo Yeon KimJong-Hee Chae
Dec 29, 2020·Brain & Development·Manami AkasakaKenjiro Kosaki

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