Highlighting the Dystonic Phenotype Related to GNAO1

Archive ouverte | Acosta, Fernando | CCSD

International audience. Background: Most reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early-onset epileptic encephalopathy and/or chorea.Objective: The aim was to characteriz...

De Novo Mutation in TMEM151A and Paroxysmal Kinesigenic Dyskinesia

Archive ouverte | Wirth, Thomas | CCSD

Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia

Archive ouverte | Doummar, Diane | CCSD

International audience. Cause of complex dyskinesia remains elusive in some patients. A homozygous missense variant leading to drastic decrease of PDE2A enzymatic activity was reported in one patient with childhood-...