Associated Papers
Calcium channelopathies and intellectual disability: a systematic review.
Kessi M et al.
Orphanet Journal of Rare Diseases, 2021
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
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
Calcium channels and channelopathies of the central nervous system.
Pietrobon D
Molecular Neurobiology, 2002
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Strom TM et al.
Nature Genetics, 1998
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