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Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10426500

Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

About this item

Full title

Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

Publisher

Singapore: Springer Nature Singapore

Journal title

Genes & Genomics, 2024, 46(4), , pp.475-487

Language

English

Formats

Publication information

Publisher

Singapore: Springer Nature Singapore

More information

Scope and Contents

Contents

Background
ATP1A3
is a gene that encodes the ATPase Na + /K + transporting subunit alpha-3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance and neurotransmitter movement. These pathways are essential for the proper functioning of the nervous system. A mutation in the
ATP1A3
gene demonstrates remark...

Alternative Titles

Full title

Childhood-related neural genotype–phenotype in ATP1A3 mutations: comprehensive analysis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10426500

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_10426500

Other Identifiers

ISSN

1976-9571,2092-9293

E-ISSN

2092-9293

DOI

10.1007/s13258-023-01481-8

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