2 documents found, page 1 of 1
A survey of the European Reference Network EpiCARE on clinical practice for sel...
Baumgartner, Tobias; Carreño, Mar; Rocamora, Rodrigo; Bisulli, Francesca; Boni, Antonella; Brázdil, Milan; Horak, Ondrej; Craiu, Dana; Pereira, CristinaObjective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an o...
Cardiac phenotype in ATP1A3-related syndromes
Balestrini, Simona; Mikati, Mohamad A.; Álvarez-García-Rovés, Reyes; Carboni, Michael; Hunanyan, Arsen S.; Kherallah, Bassil; McLean, MelissaObjective: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. Methods: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were in...