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

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.

Pengembangan Media Permainan Simulasi Jujur Tantangan untuk Meningkatkan Penyesuaian Sosial Siswa SMP Laboratorium UM Malang

The purpose of this research development is to generating an honest challenge simulation game product to increasing students social adjustment. The steps development in this research are adjusted to the research needs, namely (1) data collection (2) planning (3) development of the initial product draft (4) expert testing (5) product revision after expert testing (6) prospective user testing (7) revision the final product. Experts and prospective product users are analyzed using inter-rater agreement models (Gregory, 2011). Test validity index subject matter experts, media and prospective product users showed very high criteria. These products meet very precise criteria, very useful, very easy and very attractive to mean very feasible to use. Based on the test can be concluded that the simulation game of honest challenge to increase the social adjustment of junior high school have met the acceptance criteria. Abstrak: Tujuan dari penelitian ini adalah untuk menghasilkan produk permainan simulasi jujur tantangan untuk meningkatkan penyesuaian sosial siswa. Langkah pengembangan dalam penelitian ini disesuaikan dengan kebutuhan penelitian yaitu (1) pengumpulan data (2) perencanaan (3) pengembangan draft produk awal (4) uji coba ahli (5) revisi produk setelah uji ahli (6) uji calon pengguna (7) revisi produk akhir. Uji ahli dan uji calon pengguna dianalisis menggunakan inter-rater agreement model (Gregory, 2011). Indeks validitas uji ahli materi, media dan calon pengguna produk menunjukkan kriteria sangat tinggi. Produk ini memenuhi kriteria sangat tepat, sangat berguna, sangat mudah dan sangat menarik sehingga bermakna sangat layak untuk digunakan. Berdasarkan uji tersebut dapat disimpulkan bahwa media permainan simulasi jujur tantangan untuk meningkatkan penyesuaian sosial siswa SMP telah memenuhi kriteria keberterimaan.