5 May 2024 | Oliwia Szymanowicz, Artur Drużdż, Bartosz Slowikowski, Sandra Pawlak, Ewelina Potocka, Ulyana Goutor, Mateusz Konieczny, Malgorzata Ciaston, Aleksandra Lewandowska, Paweł P. Jagodziński, Wojciech Kozubski, Jolanta Dorszewska
The CACNA gene family, which encodes voltage-gated calcium channel (VGCC) subunits, plays a crucial role in neuronal function and is implicated in various neurological disorders. This review explores the significance of CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Variants in these genes have been linked to specific neurological phenotypes, including familial hemiplegic migraine, epileptic seizures, and focal seizures. The review highlights the complex relationship between CACNA gene variants and neurological phenotypes, emphasizing the importance of understanding the molecular mechanisms underlying these disorders. Further research on the interactions between CACNA gene variants and molecular factors, such as microRNAs, is expected to advance our understanding and treatment of genetic neurological disorders.The CACNA gene family, which encodes voltage-gated calcium channel (VGCC) subunits, plays a crucial role in neuronal function and is implicated in various neurological disorders. This review explores the significance of CACNA genes, including CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1G, and CACNA1H, in conditions such as migraine, epilepsy, cerebellar ataxia, dystonia, and cerebellar atrophy. Variants in these genes have been linked to specific neurological phenotypes, including familial hemiplegic migraine, epileptic seizures, and focal seizures. The review highlights the complex relationship between CACNA gene variants and neurological phenotypes, emphasizing the importance of understanding the molecular mechanisms underlying these disorders. Further research on the interactions between CACNA gene variants and molecular factors, such as microRNAs, is expected to advance our understanding and treatment of genetic neurological disorders.