Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or ...

Source: Orphanet Journal of Rare Diseases - December 4, 2021 Category: Internal Medicine Authors: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, M élanie Fradin, Chloé Q Tags: Research Source Type: research