Expanding the Genetic and Clinical Spectrum of <i>SCN1A</i>-Related Hemiplegic Migraine: Analysis of Mutations in Japanese.

ABSTRACT: Familial hemiplegic migraine (FHM) is characterized by repeated episodes of reversible localized neurological deficits, in addition to headache. The aura of HM includes visual, sensory, motor, and verbal symptoms. Hemiplegic migraine (HM) is classified into non-familial sporadic HM (SHM) and familial HM (FHM). Here, we analyzed the clinical symptoms and their relevance in four Japanese patients considered to have SCN1A mutations as a cause. Sequencing of SCN1A was performed using a whole exome sequence method in 48 blood samples from clinically suspected patients with FHM. Subsequently, algorithm analysis, allele frequency determination, and three-dimensional structure analysis of the recognized variants were performed, and the recognized variants were evaluated. We found fiv

SUBMITTER: Danno D 

PROVIDER: S-EPMC11855537 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature