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

BACKGROUND: 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 ob...

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Detalles Bibliográficos
Autores principales:	Keogh, Conor, Pini, Giorgio, Dyer, Adam H., Bigoni, Stefania, DiMarco, Pietro, Gemo, Ilaria, Reilly, Richard, Tropea, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195747/ https://www.ncbi.nlm.nih.gov/pubmed/30340473 http://dx.doi.org/10.1186/s12887-018-1304-7

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