Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

Berardo Rinaldi, Yu Han Ge, Elena Freri, Arianna Tucci*, Tiziana Granata, Margherita Estienne, Jia Hun Sun, Bénédicte Gérard, Allan Bayat, Stephanie Efthymiou, Cristina Gervasini, Yun Stone Shi*, Henry Houlden, Paola Marchisio, Donatella Milani

*Kontaktforfatter for dette arbejde

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AMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation.

Sider (fra-til)27-35
StatusUdgivet - jan. 2022

Bibliografisk note

Funding Information:
This work is supported by grants from National Key R & D Program of China (2019YFA0801603 to Y.S.S.), the National Natural Science Foundation of China (91849112 to Y.S.S), the Natural Science Foundation of Jiangsu Province (BE2019707 to Y.S.S.) and Fundamental Research Funds for the Central Universities (0903–14380029 to Y.S.S.). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Publisher Copyright:
© 2021, The Author(s).


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