Expanding clinical phenotype in CACNA1C related disorders: familial mesial temporal lobe epilepsy.

ABSTRACT:

Background

To provide new insights into the pathological mechanisms of epilepsy associated with variants in the calcium channel voltage-dependent L-type alpha1C subunit gene (CACNA1C, NM_001129837) and to expand the phenotype of CACNA1C-associated neurological disorders: familial mesial temporal lobe epilepsy (FMTLE).

Methods

We conducted a comprehensive analysis of clinical data from a family affected by FMTLE and carried out genetic screening of CACNA1C variants through whole-exome sequencing combined with Sanger sequencing for validation. The clinical characteristics of FMTLE were systematically reviewed, and the pathogenic potential of the identified variant was assessed following the guidelines established by the American College of Medical Genetics and Genomics (ACMG).

SUBMITTER: Wang C 

PROVIDER: S-EPMC12581321 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature