Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 7...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Słowińska, Monika, Jóźwiak, Sergiusz, Peron, Angela, Borkowska, Julita, Chmielewski, Dariusz, Sadowski, Krzysztof, Jurkiewicz, Elżbieta, Vignoli, Aglaia, La Briola, Francesca, Canevini, Maria Paola, Kotulska-Jóźwiak, Katarzyna
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5789613/
https://ncbi.nlm.nih.gov/pubmed/29378663
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0764-z
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