SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

@article{Fassio2011SYN1LM,
  title={SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.},
  author={Anna Fassio and Lysanne Patry and Sonia Congia and Franco Onofri and Am{\'e}lie Piton and Julie L Gauthier and Davide Pozzi and Mirko Messa and Enrico Defranchi and Manuela Fadda and Anna Corradi and Pietro Baldelli and Line Lapointe and Judith St-Onge and Caroline Meloche and Laurent Mottron and Flavia Valtorta and Dang Khoa Nguyen and Guy Rouleau and Fabio Benfenati and Patrick Cossette},
  journal={Human molecular genetics},
  year={2011},
  volume={20 12},
  pages={2297-307}
}
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy have been identified, many of which are implicated in synaptic function. Here we report a Q555X mutation in synapsin 1 (SYN1), an X-linked gene encoding for a neuron-specific phosphoprotein implicated in the regulation of neurotransmitter release and synaptogenesis. This nonsense mutation was found in all affected individuals from a large French-Canadian family segregating epilepsy and ASDs. Additional… CONTINUE READING
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