Epilepsy is frequently encountered in different CDG: associated electroclinical features are myoclonic, clonic, tonic–clonic, focal seizures, migrating partial seizures and infantile spasms. EEG patterns include generalized, focal, multifocal, and burst suppression. Chapter 41: Epilepsy Caused by Congenital Disorders of Glycosylation 303 C:/ITOOLS/WMS/CUP-NEW/16559320/WORKINGFOLDER/SHORVON/9781108420754C41.3D 304 [300–304] 12.2.2019 11:17AM CDG screening (i.e. serum transferrin IEF or capillary zone electrophoresis) should be included in the metabolic work-up of all children with unexplained early-onset epileptogenic encephalopathy, especially in the context of multisystem involvement (e.g. dysmorphic features, failure to thrive, coagulation abnormalities, gastrointestinal symptoms). NGS might disclose the diagnosis in patients with severe epileptic encephalopathy, despite normal serum transferrin glycosylation, as described in several CDG. Prompt identification of these conditions in affected infants will allow avoidance of invasive investigations while enabling early genetic counseling to their families.
|Titolo:||Epilepsy Caused by Congenital Disorders of Glycosylation|
BARONE, RITA MARIA ELISA [Writing – Review & Editing]
|Data di pubblicazione:||2019|
|Appare nelle tipologie:||2.1 Contributo in volume (Capitolo o Saggio)|