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GNAO1-related Neurodevelopmental Disorder Presenting as Acute Encephalitis Syndrome: A Phenotypic Expansion.

作者信息

Panda Prateek Kumar, Elwadhi Aman, Dasgupta Soura, Gupta Diksha, Tomar Apurva, Sharawat Indar Kumar

机构信息

Department of Pediatrics, Pediatric Neurology Division, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

出版信息

Ann Indian Acad Neurol. 2023 Sep-Oct;26(5):829-831. doi: 10.4103/aian.aian_597_23. Epub 2023 Sep 25.

Abstract
摘要

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本文引用的文献

1
GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.
Epilepsy Behav Rep. 2022 Dec 31;21:100582. doi: 10.1016/j.ebr.2022.100582. eCollection 2023.
2
Highlighting the Dystonic Phenotype Related to GNAO1.
Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20.
3
Mouse models of GNAO1-associated movement disorder: Allele- and sex-specific differences in phenotypes.
PLoS One. 2019 Jan 25;14(1):e0211066. doi: 10.1371/journal.pone.0211066. eCollection 2019.
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Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.
J Inherit Metab Dis. 2018 Nov;41(6):1077-1091. doi: 10.1007/s10545-018-0205-0. Epub 2018 Jun 13.
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A mechanistic review on GNAO1-associated movement disorder.
Neurobiol Dis. 2018 Aug;116:131-141. doi: 10.1016/j.nbd.2018.05.005. Epub 2018 May 24.
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The syndrome of acute encephalitis in children in India: Need for new thinking.
Indian J Med Res. 2017 Aug;146(2):158-161. doi: 10.4103/ijmr.IJMR_1497_16.
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Movement disorder in encephalopathy associated with gain-of-function mutations.
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encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Neurol Genet. 2017 Mar 21;3(2):e143. doi: 10.1212/NXG.0000000000000143. eCollection 2017 Apr.
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Acute Encephalitis Syndrome in India: The Changing Scenario.
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