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

Abstract 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 mutation...

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Autores principales: Conor Keogh, Giorgio Pini, Adam H. Dyer, Stefania Bigoni, Pietro DiMarco, Ilaria Gemo, Richard Reilly, Daniela Tropea
Formato: Artigo
Lenguaje:Inglês
Publicado: BMC 2018-10-01
Colección:BMC Pediatrics
Materias:
Rett syndrome
MeCP2
CDKL5
EEG
Network
Acceso en línea:http://link.springer.com/article/10.1186/s12887-018-1304-7
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