Associated Papers
Case Report: Clinical delineation of CACNA1D mutation: New cases and literature review.
Alzahrani A et al.
Frontiers in Neurology, 2023
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
33584831 (PubMed )
Supplement: Data_Sheet_1.PDF
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.
Hofer NT et al.
Molecular Autism, 2020
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