Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy.
Sign Up to like & getrecommendations! Published in 2021 at "Neurological research"
DOI: 10.1080/01616412.2021.1979748
Abstract: OBJECTIVES Genetic factors play an important role in the onset of epilepsy, and the involvement of the RELN gene was recently discovered. This paper reports a family with a history of epilepsy caused by a… read more here.
Keywords: reln gene; heterozygous missense; mutation reln; missense mutation ... See more keywords
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
Sign Up to like & getrecommendations! Published in 2022 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-022-02252-6
Abstract: Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in… read more here.
Keywords: heterozygous missense; gnas gene; function; gene ... See more keywords
Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family
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DOI: 10.3389/fgene.2022.839212
Abstract: Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only… read more here.
Keywords: col4a3; mutation col4a3; missense mutation; heterozygous missense ... See more keywords
Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities
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DOI: 10.3389/fgene.2022.859140
Abstract: Objective: Neurodevelopmental disorder with or without seizure and gait abnormalities (NEDSGA, MIM * 617864) is a newly described autosomal dominant inherited disease caused by a heterozygous variant in the GRIA4 gene. GRIA4 plays an essential… read more here.
Keywords: variant; variant gria4; gria4; heterozygous missense ... See more keywords