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Archive ouverte | Kim, Christine Y. | CCSD

PPP2R5D-related neurodevelopmental disorder is characterized by a range of neurodevelopmental and behavioral manifestations. We report the association of early-onset parkinsonism with the PPP2R5D p.E200K mutation. Clinical charact...

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...

Increased diagnostic yield in complex dystonia through exome sequencing

Archive ouverte | Wirth, Thomas | CCSD

International audience

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