Associated Papers
Concomitant Calcium Channelopathies Involving CACNA1A and CACNA1F: A Case Report and Review of the Literature.
Schaare D et al.
Genes, 2023
36833327 (PubMed )
Supplement: genes-14-00400-s001.zip › Supplementary_Document_S6_S7.xlsx › Supplementary_Document_7
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U et al.
Genes, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels.
Williams B et al.
The Journal of Biological Chemistry, 2020
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Kimchi A et al.
Ophthalmic Genetics, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
Ca2+ Channels in Anterior Pituitary Somatotrophs: A Therapeutic Perspective.
Nussinovitch I
Endocrinology, 2018
Contribution of post-receporal cells to the cone a-wave of the human electroretinogram in congenital stationary night blindness and autoimmune-like retinopathy.
Bradshaw K et al.
Vision Research, 2010
Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2.
Doering CJ et al.
Plos One, 2008
Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
Peloquin JB et al.
Neuroscience, 2007
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K et al.
European Journal of Human Genetics : Ejhg, 2002
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