De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Laurence HubertMagda Cannata SerioLaure Villoing-GaudéNathalie BoddaertAnna KaminskaMarlène RioStanislas LyonnetArnold MunnichKarine PoirierMatias SimonsClaude Besmond

Published in: Journal of medical genetics (2019)

Our study identifies SCAMP5 deficiency as a cause for ASD and ID and underscores the importance of synaptic vesicular trafficking in neurodevelopmental disorders.

Keyphrases

autism spectrum disorder
genome wide
attention deficit hyperactivity disorder
intellectual disability
gene expression