STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

@article{Mignot2011STXBP1relatedEP,
  title={STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.},
  author={Cyril Mignot and M L Moutard and Oriane Trouillard and Isabelle Gourfinkel-An and Aur{\'e}lia Jacquette and Beno{\^i}t Arveiler and Fanny Morice-Picard and Didier Lacombe and Catherine Chiron and Doroth{\'e}e Ville and Perrine Charles and Eric Leguern and Christel Depienne and D{\'e}lphine Heron},
  journal={Epilepsia},
  year={2011},
  volume={52 10},
  pages={1820-7}
}
PURPOSE Dominant mutations in the STXBP1 gene are a recently identified cause of infantile epileptic encephalopathy without metabolic and structural brain anomalies. To date, 25 patients with heterozygous mutation or deletion of STXBP1 have been reported. A diagnosis of early infantile epileptic encephalopathy with suppression-burst (Ohtahara syndrome) was… CONTINUE READING