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Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epilept...

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epilept...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2953f38a05f94b3ba93aa65cf0fdc85f

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

About this item

Full title

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

Publisher

Bognor Regis: John Wiley & Sons, Inc

Journal title

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

Language

English

Formats

Publication information

Publisher

Bognor Regis: John Wiley & Sons, Inc

More information

Scope and Contents

Contents

Background
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 bin...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_2953f38a05f94b3ba93aa65cf0fdc85f

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2953f38a05f94b3ba93aa65cf0fdc85f

Other Identifiers

ISSN

2324-9269

E-ISSN

2324-9269

DOI

10.1002/mgg3.1388

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