Fig. 1From: The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel functionCaV2.1 topology. Schematic representation showing the locus of the Y1384C substitution (red circle) on the secondary structure of the CaV2.1α1 subunit. The CaV2.1 terminus full-length C-terminal variant is produced by alternative splicing of exon 47Back to article page