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Early onset developmental and epileptic encephalopathy and Rett-like phenotype in a 15-year-old girl affected by Cornelia de Lange syndrome type 2 due to a SMC1A gene mutation

Developmental and epileptic encephalopathies (DEE) are conditions in which a mutated gene may cause abnormal functioning of the central nervous system, resulting in both encephalopathy and epileptogenesis. We present a case of a girl with a DEE characterized by a Rett-like phenotype in association w...

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Principais autores: L. Parmeggiani, F. Stanzial, E. Menna, E. Boni, F. Manzoni, F. Benedicenti, S. Pellegrin
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2023-01-01
Serier:Epilepsy & Behavior Reports
Fag:
SMC1A
Developmental and epileptic encephalopathy
Epilepsy
Neurodevelopmental disorder
Developmental regression
PCDH19-related epilepsy
Online adgang:http://www.sciencedirect.com/science/article/pii/S2589986423000527
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