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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Detalhes bibliográficos
Publicado no:BMC Pediatr
Main Authors: Keogh, Conor, Pini, Giorgio, Dyer, Adam H., Bigoni, Stefania, DiMarco, Pietro, Gemo, Ilaria, Reilly, Richard, Tropea, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6195747/
https://ncbi.nlm.nih.gov/pubmed/30340473
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1304-7
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