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

• मुख्य लेखकों: Chunran Xue (लेखक), Yishu Wang (लेखक), Jing Peng (लेखक), Sisi Feng (लेखक), Yangtai Guan (लेखक), Yong Hao (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...