Article
Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017
Bernardo Silvia, Marchionni Enrica, Prudente Sabrina, De Liso Paola, Spalice Alberto, Giancotti Antonella, Manganaro Lucia, Pizzuti Antonio
Abstract excerpt
We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia...
Topics
Join the communities discussing this publication.