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

BackgroundPeriventricular 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), whic...

Full description

Bibliographic Details

Published in:	Frontiers in Pharmacology
Main Authors:	Chunran Xue, Yishu Wang, Jing Peng, Sisi Feng, Yangtai Guan, Yong Hao
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2024-09-01
Subjects:	filamin A periventricular nodular heterotopia epilepsy induced pluripotent stem cell f-actin
Online Access:	https://www.frontiersin.org/articles/10.3389/fphar.2024.1429177/full