Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.

ABSTRACT: Biallelic variants in CACNA1A have previously been reported in nine individuals (four families) presenting with epilepsy and cognitive impairments of variable severity and age-of-onset. Here, we describe a child who presented at 6 months of age with drug-resistant epilepsy and developmental delay. At 10 years of age, she has profound impairments in motor function and communication. MRI was initially unremarkable, but progressed to severe cerebellar atrophy by age 3 years. Next Generation Sequencing and panel analysis identified a maternally inherited truncating variant c.2042_2043delAG, p.(Gln681ArgfsTer100) and paternally inherited missense variant c.1693G>A, p.(Glu565Lys). In contrast to previously reported biallelic cases, parents carrying these monoallelic variants did not display clea

SUBMITTER: Wong-Spracklen VMY 

PROVIDER: S-EPMC9826308 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature