De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.

@article{Hamdan2009DeNS,
  title={De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy.},
  author={Fadi Hamdan and Am{\'e}lie Piton and Julie L Gauthier and Anne Lortie and François Dubeau and Sylvia Dobrzeniecka and Dan Spiegelman and Anne Noreau and St{\'e}phanie Pellerin and M{\'e}lanie C{\^o}t{\'e} and Edouard Henrion and E. J. Fombonne and Laurent Mottron and Claude Marineau and Pierre Drapeau and Ronald G. Lafreni{\'e}re and J. C. Lacaille and Guy Rouleau and Jacques L. Michaud},
  journal={Annals of neurology},
  year={2009},
  volume={65 6},
  pages={748-53}
}
We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase polymerase chain reaction and sequencing showed that the splicing mutation creates a… CONTINUE READING

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