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

BACKGROUND: ATP1A3 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 a...

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Publicado en:Front Cell Neurosci
Autores principales: Allocco, August A., Jin, Sheng Chih, Duy, Phan Q., Furey, Charuta G., Zeng, Xue, Dong, Weilai, Nelson-Williams, Carol, Karimy, Jason K., DeSpenza, Tyrone, Hao, Le T., Reeves, Benjamin, Haider, Shozeb, Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2019
Materias:
Neuroscience
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6775207/
https://ncbi.nlm.nih.gov/pubmed/31616254
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fncel.2019.00425
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