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GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey

BACKGROUND: GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medicatio...

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Autores principales: JoJo Yang, Qian-Zhou, Porter, Brenda E, Axeen, Erika T
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841045/
https://www.ncbi.nlm.nih.gov/pubmed/36654732
http://dx.doi.org/10.1016/j.ebr.2022.100582
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author JoJo Yang, Qian-Zhou
Porter, Brenda E
Axeen, Erika T
author_facet JoJo Yang, Qian-Zhou
Porter, Brenda E
Axeen, Erika T
author_sort JoJo Yang, Qian-Zhou
collection PubMed
description BACKGROUND: GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1. METHODS: An online survey was distributed to caregivers of individuals diagnosed with GNAO1 pathogenic variants, and a literature review was conducted. RESULTS: Fifteen respondents completed the survey with the median age of 39 months, including a novel variant p.Q52P. Nine had epilepsy – six had onset in the first week of life, three in the first year of life – but two reported no ongoing seizures. Seizure types varied. Individuals were taking a median of 3 seizure medications without a single best treatment. Our cohort was compared to a literature review of epilepsy in GNAO1. In 86 cases, 38 discrete variants were described; epilepsy is reported in 53 % cases, and a developmental and epileptic encephalopathy in 36 %. CONCLUSIONS: While GNAO1-related epilepsy is most often early-onset and severe, seizures may not always be drug resistant or lifelong. Experience with anti-seizure medications is varied. Certain variant “hotspots” may correlate with epilepsy phenotype though genotype-phenotype correlation is poorly understood.
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spelling pubmed-98410452023-01-17 GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey JoJo Yang, Qian-Zhou Porter, Brenda E Axeen, Erika T Epilepsy Behav Rep Case Report BACKGROUND: GNAO1-related neurodevelopmental disorder is a heterogeneous condition characterized by hypotonia, developmental delay, epilepsy, and movement disorder. This study aims to better understand the spectrum of epilepsy associated with GNAO1 variants and experience with anti-seizure medications, and to review published epilepsy phenotypes in GNAO1. METHODS: An online survey was distributed to caregivers of individuals diagnosed with GNAO1 pathogenic variants, and a literature review was conducted. RESULTS: Fifteen respondents completed the survey with the median age of 39 months, including a novel variant p.Q52P. Nine had epilepsy – six had onset in the first week of life, three in the first year of life – but two reported no ongoing seizures. Seizure types varied. Individuals were taking a median of 3 seizure medications without a single best treatment. Our cohort was compared to a literature review of epilepsy in GNAO1. In 86 cases, 38 discrete variants were described; epilepsy is reported in 53 % cases, and a developmental and epileptic encephalopathy in 36 %. CONCLUSIONS: While GNAO1-related epilepsy is most often early-onset and severe, seizures may not always be drug resistant or lifelong. Experience with anti-seizure medications is varied. Certain variant “hotspots” may correlate with epilepsy phenotype though genotype-phenotype correlation is poorly understood. Elsevier 2022-12-31 /pmc/articles/PMC9841045/ /pubmed/36654732 http://dx.doi.org/10.1016/j.ebr.2022.100582 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
JoJo Yang, Qian-Zhou
Porter, Brenda E
Axeen, Erika T
GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title_full GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title_fullStr GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title_full_unstemmed GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title_short GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey
title_sort gnao1-related neurodevelopmental disorder: literature review and caregiver survey
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9841045/
https://www.ncbi.nlm.nih.gov/pubmed/36654732
http://dx.doi.org/10.1016/j.ebr.2022.100582
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