GNAO1-related neurodevelopmental disorder: Literature review and caregiver survey.
Epilepsy Behav Rep
; 21: 100582, 2023.
Article
de En
| MEDLINE
| ID: mdl-36654732
ABSTRACT
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.
ASM, antiseizure medications; DEE, developmental and epileptic encephalopathy; Developmental and epileptic encephalopathy; EEG, electroencephalogram; Epilepsy; GNAO1; GNAO1, G protein subunit alpha o1; GPCR, G protein coupled receptor; Genetic; MRI, magnetic resonance imaging; Movement disorder; Neurodevelopmental disorder; cAMP, cyclic adenosine monophosphate
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Langue:
En
Journal:
Epilepsy Behav Rep
Année:
2023
Type de document:
Article
Pays d'affiliation:
États-Unis d'Amérique