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Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

Chia sẻ: ViDublin2711 ViDublin2711 | Ngày: | Loại File: PDF | Số trang:15

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Rett Syndrome (RTT) is a complex neurodevelopmental disorder, frequently associated with epilepsy. Despite increasing recognition of the clinical heterogeneity of RTT and its variants (e.g Classical, Hanefeld and PSV(Preserved Speech Variant)), the link between causative mutations and observed clinical phenotypes remains unclear.

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Nội dung Text: Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles

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