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...
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Frontiers Media S.A.,
2024-09-01T00:00:00Z.
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