case_images: PMC11191759_01
case_images: Family pedigree, exon map of CACNA1A gene showing the variant in exon 12 and conservation of mutated nucleotide across species. (A) Extended pedigree showing consanguineous marriage with the arrows pointing to the affected case (solid box) including other healthy siblings (open box). (B) Detailed exon map of the CACNA1A gene (reverse strand) showing all the 47 exons (numbered 1-23) including the variant c.1602G>A; p.M534I in exon12. (C) Part of the CACNA1A amino acid sequence obtained from NCBI showing the conservation of the mutated residue (M534) across species. CACNA1A, calcium voltage-gated channel subunit alpha1 A.
case_images: bmjno-2024-000710f01.jpg
case_images: PMC11191759_01_bmjno-2024-000710f01.jpg
case_images: F1
case_images: His family history was notable for consanguinity in his parents; however, all other male and female siblings were apparently healthy (figure 1A).