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Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epilep...

Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epilep...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2442178505

Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

About this item

Full title

Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

Publisher

United States: John Wiley & Sons, Inc

Journal title

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1388

Language

English

Formats

Publication information

Publisher

United States: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y-aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system. It regulates activity of channel pores by binding to transmemb...

Alternative Titles

Full title

Rare variants in the GABA A receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_journals_2442178505

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2442178505

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.1388

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