Academic Journal
Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene
| العنوان: | Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene |
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| المؤلفون: | Rinaldi B., Ge Y. -H., Freri E., Tucci A., Granata T., Estienne M., Sun J. -H., Gerard B., Bayat A., Efthymiou S., Gervasini C., Shi Y. S., Houlden H., Marchisio P., Milani D. |
| المساهمون: | B. Rinaldi, Y.-. Ge, E. Freri, A. Tucci, T. Granata, M. Estienne, J.-. Sun, B. Gerard, A. Bayat, S. Efthymiou, C. Gervasini, Y.S. Shi, H. Houlden, P. Marchisio, D. Milani |
| بيانات النشر: | Springer |
| سنة النشر: | 2022 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | AMPAR, cerebellar hypoplasia, glutamate, GRIA3, myoclonic status epilepticus, Settore MED/03 - Genetica Medica |
| الوصف: | 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 tochromosome 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/34731330; info:eu-repo/semantics/altIdentifier/wos/WOS:000714312400001; volume:23; issue:1; firstpage:27; lastpage:35; numberofpages:9; journal:NEUROGENETICS; http://hdl.handle.net/2434/893317; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118528582 |
| DOI: | 10.1007/s10048-021-00666-1 |
| الاتاحة: | http://hdl.handle.net/2434/893317 https://doi.org/10.1007/s10048-021-00666-1 |
| Rights: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.637DF035 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s10048-021-00666-1 |
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