De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
نویسندگان
چکیده
منابع مشابه
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Polymicrogyria is a malformation of cortical development. The aetiology of polymicrogyria remains poorly understood. Using whole-exome sequencing we found de novo heterozygous missense GRIN1 mutations in 2 of 57 parent-offspring trios with polymicrogyria. We found nine further de novo missense GRIN1 mutations in additional cortical malformation patients. Shared features in the patients were ext...
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متن کاملDisease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.
Loss-of-function mutations in the gene encoding G protein-coupled receptor 56 (GPR56) lead to bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive disorder affecting brain development. The GPR56 receptor is a member of the adhesion-GPCR family characterized by the chimeric composition of a long ectodomain (ECD), a GPCR proteolysis site (GPS), and a seven-pass transmembrane (7T...
متن کاملBilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
PURPOSE Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. Eleven mutations in GPR56, a gene encoding an evolutionarily dynamic G-protein-coupled receptor, have been identified in 29 patients from 18 families. The clinical features of BFPP include severe mental retardation, motor and language impairment, and epilepsy. No detailed de...
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ژورنال
عنوان ژورنال: Brain
سال: 2018
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awx358