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

• Κύριοι συγγραφείς: Chunran Xue (Συγγραφέας), Yishu Wang (Συγγραφέας), Jing Peng (Συγγραφέας), Sisi Feng (Συγγραφέας), Yangtai Guan (Συγγραφέας), Yong Hao (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Frontiers Media S.A., 2024-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: 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...