GNAO1-related Neurodevelopmental Disorder Presenting as Acute Encephalitis Syndrome: A Phenotypic Expansion
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Published in | Annals of the Indian Academy of Neurology Vol. 26; no. 5; pp. 829 - 831 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Mumbai
Medknow Publications and Media Pvt. Ltd
01.09.2023
Medknow Publications & Media Pvt. Ltd Wolters Kluwer Medknow Publications |
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Audience | Academic |
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Author | Gupta, Diksha Sharawat, Indar Elwadhi, Aman Panda, Prateek Dasgupta, Soura Tomar, Apurva |
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Cites_doi | 10.1684/epd.2017.0888 10.1159/000449177 10.1212/WNL.0000000000004262 10.1002/mds.29074 10.1212/NXG.0000000000000143 10.1016/j.nbd.2018.05.005 10.1016/j.ebr.2022.100582 10.1371/journal.pone.0211066 10.4103/ijmr.IJMR_1497_16 10.1007/s10545-018-0205-0 |
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References | Feng (R4-20240828) 2017; 8 Wirth (R7-20240828) 2022; 37 Ghosh (R1-20240828) 2016; 23 Feng (R8-20240828) 2018; 116 Arya (R3-20240828) 2017; 19 Abela (R6-20240828) 2018; 41 John (R2-20240828) 2017; 146 Feng (R5-20240828) 2019; 14 Danti (R9-20240828) 2017; 3 JoJo Yang (R10-20240828) 2022; 21 |
References_xml | – volume: 19 start-page: 67 year: 2017 ident: R3-20240828 article-title: GNAO1-associated epileptic encephalopathy and movement disorders: c. 607G>A variant represents a probable mutation hotspot with a distinct phenotype publication-title: Epileptic Disord Int Epilepsy J Videotape doi: 10.1684/epd.2017.0888 contributor: fullname: Arya – volume: 23 start-page: 131 year: 2016 ident: R1-20240828 article-title: Acute encephalitis syndrome in India: The changing scenario publication-title: Ann Neurosci doi: 10.1159/000449177 contributor: fullname: Ghosh – volume: 8 start-page: 762 year: 2017 ident: R4-20240828 article-title: Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations publication-title: Neurology doi: 10.1212/WNL.0000000000004262 contributor: fullname: Feng – volume: 37 start-page: 1547 year: 2022 ident: R7-20240828 article-title: Highlighting the dystonic phenotype related to GNAO1 publication-title: Mov Disord Off J Mov Disord Soc doi: 10.1002/mds.29074 contributor: fullname: Wirth – volume: 3 start-page: e143 year: 2017 ident: R9-20240828 article-title: GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome publication-title: Neurol Genet doi: 10.1212/NXG.0000000000000143 contributor: fullname: Danti – volume: 116 start-page: 131 year: 2018 ident: R8-20240828 article-title: A mechanistic review on GNAO1-associated movement disorder publication-title: Neurobiol Dis doi: 10.1016/j.nbd.2018.05.005 contributor: fullname: Feng – volume: 21 start-page: 100582 year: 2022 ident: R10-20240828 article-title: GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey publication-title: Epilepsy Behav Rep doi: 10.1016/j.ebr.2022.100582 contributor: fullname: JoJo Yang – volume: 14 start-page: e0211066 year: 2019 ident: R5-20240828 article-title: Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes publication-title: PLoS One doi: 10.1371/journal.pone.0211066 contributor: fullname: Feng – volume: 146 start-page: 158 year: 2017 ident: R2-20240828 article-title: The syndrome of acute encephalitis in children in India: Need for new thinking publication-title: Indian J Med Res doi: 10.4103/ijmr.IJMR_1497_16 contributor: fullname: John – volume: 41 start-page: 1077 year: 2018 ident: R6-20240828 article-title: Postsynaptic movement disorders: Clinical phenotypes, genotypes, and disease mechanisms publication-title: J Inherit Metab Dis doi: 10.1007/s10545-018-0205-0 contributor: fullname: Abela |
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SubjectTerms | Case studies Child development deviations Developmental disabilities Diagnosis Diseases Encephalitis Fatty acids Genetic aspects Genetic disorders Infants (Newborn) Levetiracetam Movement disorders Nervous system diseases Neurodevelopmental disorders Seizures (Medicine) Virus diseases |
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Title | GNAO1-related Neurodevelopmental Disorder Presenting as Acute Encephalitis Syndrome: A Phenotypic Expansion |
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