Characterizes a genetic variant impacting clinical features of periventricular nodular heterotopia in a Chinese pedigree, suggesting implications for understanding epilepsy.
Periventricular nodular heterotopia (PNH) is a neuronal migration disorder caused by the failure of neurons to migrate properly to the cerebral cortex, characterized predominantly by epilepsy. Most PNH cases are associated with variants in FLNA, which is inherited in an X-linked pattern and exhibits a female predominance. Affected male patients typically experience prenatal or early postnatal lethality; only those with distal truncating or mosaic variants have been reported to survive. In this study, we aimed to characterize the clinical and genetic features of a Chinese pedigree with PNH.
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Zhang et al. (2026) studied this question.
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