<i>GNAO1</i> encephalopathy

Federica Rachele Danti, Serena Galosi, Marta Romani, Martino Montomoli, Keren Carss, F. Lucy Raymond, Elena Parrini, Claudia Bianchini, Tony McShane, Russell C. Dale,

Neurology Genetics · 2017 · 102 citations · 28 references

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Abstract

Our findings support the causative role of <i>GNAO1</i> mutations in an expanded spectrum of early-onset epilepsy and movement disorders, frequently exacerbated by specific triggers and at times associated with self-injurious behavior. Tetrabenazine and DBS were the most useful treatments for dyskinesia.

References

28