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IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11420756

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

About this item

Full title

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2024-08, Vol.61 (9), p.895-903

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Background IFIH1 variants have been reported to be associated with immune-related disorders with/without seizures. It is unknown whether IFIH1 variants are associated with common epilepsy without acquired causes and the mechanism underlying phenotypic variation remains elusive.MethodsTrio-based whole-exome sequencing was performed on patients with...

Alternative Titles

Full title

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11420756

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11420756

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmg-2024-109950

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