A novel CACNA1A variant in a child with early stroke and intractable epilepsy.
Franciska J GudenkaufMahshid S AzamianJill V HunterAnuranjita NayakSeema R LalaniPublished in: Molecular genetics & genomic medicine (2020)
We present the second case of recurrent ischemic strokes in a patient with CACNA1A mutation. Our findings expand the phenotypic heterogeneity related to Cav 2.1 (P/Q-type) calcium channel dysfunction and suggest consideration of CACNA1A disorder in evaluation of pediatric strokes.