Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3

BackgroundATP1A3 encodes the α3 subunit of the Na+/K+ ATPase, a fundamental ion-transporting enzyme. Primarily expressed in neurons, ATP1A3 is mutated in several autosomal dominant neurological diseases. To our knowledge, damaging recessive genotypes in ATP1A3 have never been associated with any hum...

Full description

Bibliographic Details
Main Authors: August A. Allocco, Sheng Chih Jin, Phan Q. Duy, Charuta G. Furey, Xue Zeng, Weilai Dong, Carol Nelson-Williams, Jason K. Karimy, Tyrone DeSpenza, Le T. Hao, Benjamin Reeves, Shozeb Haider, Murat Gunel, Richard P. Lifton, Kristopher T. Kahle
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Cellular Neuroscience
Subjects:
congenital hydrocephalus
ATP1A3
Na+/K+ ATPase
whole exome sequencing
genetics
Online Access:https://www.frontiersin.org/article/10.3389/fncel.2019.00425/full

Internet

https://www.frontiersin.org/article/10.3389/fncel.2019.00425/full

Similar Items