Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia.

ABSTRACT:

Background

Periventricular nodular heterotopia (PVNH) is a neuronal migration disorder caused by the inability of neurons to move to the cortex. Patients with PVNH often experience epilepsy due to ectopic neuronal discharges. Most cases of PVNH are associated with variations in filamin A (FLNA), which encodes an actin-binding protein. However, the underlying pathological mechanisms remain unclear.

Methods

Next-generation sequencing was performed to detect variants in the patient with PVNH, and the findings were confirmed using Sanger sequencing. Iterative threading assembly refinement was used to predict the structures of the variant proteins, and the search tool for the retrieval of interacting genes/proteins database was used to determine the interactions between FL

SUBMITTER: Xue C 

PROVIDER: S-EPMC11466872 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature