Skip to main content
. 2024 Aug 19;169(1):e16197. doi: 10.1111/jnc.16197

TABLE 1.

Previously reported cases of infantile‐onset epilepsy with bi‐allelic mutations in CACNA2D2.

Publication Genetic alteration Patient Common main symptoms Seizure onset (month) Functional characterization
Edvardson et al., 2013

Homozygous

c.3199A > g (p.L1040P)

Three affected siblings

(2 Female, 1 Male)

  • Infantile‐onset epilepsy

  • Global developmental Delay

  • Cerebellar atrophy

 1–2 Failed to increase current density of both N (CaV2.2) and L (CaV1.2) Type Ca2+ channels when expressed in Xenopus oocytes
Pippucci et al., 2013

Homozygous

c.1295delA (p.Asn432fs)

 Male 5 Abolished α2δ − 2 protein expression in patient
Butler et al., 2018

Compound Heterozygous

c.782C > T (p.Pro261Leu)

c.3137 T > C (p.Leu1046Pro)

 Male 7 Not available
Punetha et al., 2019 Homozygous c.485_486del (p.Tyr162Ter) Male 7
Homozygous c.1778G > C (p.Arg593Pro)

Two affected siblings

(1 female, 1 male)

 1–2 The present study

Note: Summary of the clinical and molecular features of individuals with rare biallelic CACNA2D2 variants (Butler et al., 2018; Edvardson et al., 2013; Pippucci et al., 2013; Punetha et al., 2019).