PMC8297685_01
PMC8297685_02
PMC8297685_03
(A) Pedigree of individual #1 shows that the variant p.Gly396Val (p.G396V) is de novo. (B) Amino acid sequence alignment of Kv1.1 subunits across several species and human Kv1.2 subunit demonstrates conservation of the Gly396 residue. (C) Nucleotide sequence with heterozygote substitution of G with T (c.1187G>T) in individual #1. (D) Pedigree of individual #2 demonstrates de novo status of the variant. (E) Nucleotide sequence with heterozygote substitution of G with C in individual #2 (c.1186G>C).
fneur-12-701351-g0001.jpg
PMC8297685_03_fneur-12-701351-g0001.jpg
F1
Exome data reanalysis of six exome-negative patients with paroxysmal movement disorders from our local patient database in 2020 revealed the variant p.Gly396Val in KCNA1 (Figure 1). Alignment of Kv1 channels across species, shaker, and Kv1.2 (Figure 1) indicates that the Gly396 residue is highly conserved among all species and tested channels.
PMC8297685_04
(A) Pedigree of individual #3 shows autosomal dominant inheritance. (B) Amino acid sequence alignment of SLC2A1 across several species demonstrates conservation of the Met96 residue. (C) Nucleotide sequence with substitution of A with G (c.286A>G).
fneur-12-701351-g0002.jpg
PMC8297685_04_fneur-12-701351-g0002.jpg
F2
Family history was positive for PED (for pedigree, see Figure 2). The amino acid position is located in the S3 helix and is conserved among several species (Figure 2).
PMC8297685_05