Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1,...

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Veröffentlicht in:Human genome variation 2020-09, Vol.7 (1), p.29
Hauptverfasser: Nishimura, Naoto, Kumaki, Tatsuro, Murakami, Hiroaki, Enomoto, Yumi, Katsumata, Kaoru, Toyoshima, Katsuaki, Kurosawa, Kenji
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container_issue 1
container_start_page 29
container_title Human genome variation
container_volume 7
creator Nishimura, Naoto
Kumaki, Tatsuro
Murakami, Hiroaki
Enomoto, Yumi
Katsumata, Kaoru
Toyoshima, Katsuaki
Kurosawa, Kenji
description Variants of GRIN1, which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.(Asn650Thr) of GRIN1, which could result in the disruption of the third transmembrane domain (M3) of GluN1. This case expands our understanding of the known phenotypes of GRIN1-related neurodevelopmental disorders.
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title Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant
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