Vanishing basal ganglia in ATP1A3-related polymicrogyria

Am J Med Genet A. 2022 Feb;188(2):665-667. doi: 10.1002/ajmg.a.62531. Epub 2021 Oct 11.

Authors

Eri Ogawa^{1

2}, Yuri Sakaguchi¹, Mikako Enokizono³, Hiroshi Yoshihashi⁴, Mamiko Yamada⁵, Hisato Suzuki⁵, Kenjiro Kosaki⁵, Sahoko Miyama¹, Toshiki Takenouchi²

Affiliations

¹ Department of Child Neurology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
² Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
³ Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
⁴ Department of Clinical Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
⁵ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.

PMID: 34633143
DOI: 10.1002/ajmg.a.62531

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Basal Ganglia / metabolism
Basal Ganglia / pathology
Brain / diagnostic imaging
Brain / metabolism
Brain / pathology
Humans
Mutation
Polymicrogyria* / diagnostic imaging
Polymicrogyria* / genetics
Polymicrogyria* / pathology
Sodium-Potassium-Exchanging ATPase / genetics
Sodium-Potassium-Exchanging ATPase / metabolism

Substances

ATP1A3 protein, human
Sodium-Potassium-Exchanging ATPase