Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.

ABSTRACT:

Background

Epilepsy is a neurological disorder characterized by the potential to induce seizure and accompanied by cognitive, psychological, and social consequences. CACNA1A gene is a voltage-gated P/Q-type Cav2.1 channel that is broadly expressed in the central nervous system, and the pathogenic variants within this gene may be associated with the epileptic phenotype. In the present study, we collected clinical and molecular data related to epileptic patients with CACNA1A pathogenic variants and investigated possible meaningful relationship between age at onset, neurodevelopmental disorders, type of seizures, brain imaging abnormalities, genotype, and protein domains.

Results

In our retrospective literature studies, from among 890 articles reviewed, a total of 90 individual

SUBMITTER: Alehabib E 

PROVIDER: S-EPMC8562004 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature