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Epilepsy phenotype in patients with Xp22.31 microduplication

The clinical significance of Xp22.31 microduplication is still unclear. We describe a family in which a mother and two children have Xp22.31 microduplication associated with different forms of epilepsy and epileptiform EEG abnormalities. The proband had benign epilepsy with centrotemporal spikes wit...

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Dades bibliogràfiques
Publicat a:Epilepsy Behav Case Rep
Autors principals: Brinciotti, Mario, Fioriello, Francesca, Mittica, Antonio, Bernardini, Laura, Goldoni, Marina, Matricardi, Maria
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6310737/
https://ncbi.nlm.nih.gov/pubmed/30603611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebcr.2018.10.004
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