Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia
Diane Doummar, Christel Dentel, Romane Lyautey, Julia Métreau, Boris Keren, Nathalie Drouot, Ludivine Malherbe, Viviane Bouilleret, Jérémie Courraud, Maria Paola Valenti‐Hirsch, Lorella Minotti, Blandine Dozières‐Puyravel, Séverine Bär, Julia Scholly, Élise Schaefer, Caroline Nava, Thomas Wirth, Hala Nasser, Marie de Salins, Anne de Saint Martin, Marie Thérèse Abi Warde, Philippe Kahane, Édouard Hirsch, Mathieu Anheim, Sylvie Friant, Jamel Chelly, Cyril Mignot, Gabrielle Rudolf
Topics & Concepts
Paroxysmal dyskinesiaMissense mutationDyskinesiaEpilepsyIctalCompound heterozygosityMedicinePediatricsPhenotypeInternal medicineGeneticsBiologyPsychiatryDiseaseParkinson's diseaseGenePhosphodiesterase function and regulationGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases