Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.

@article{Stuelpnagel2017EpilepsyIP,
  title={Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.},
  author={Celina von Stuelpnagel and Matthias Ensslen and Rikke Steensbjerre M\oller and Deb K. Pal and Silvia Masnada and Pierangelo Veggiotti and Elena Piazza and M Dreesmann and Till Hartlieb and T Herberhold and Elaine Hughes and Moritz Koch and Christina Kutzer and Konstanze H{\"o}rtnagel and J Nitanda and Martin Pohl and Kevin Rost{\'a}sy and Tobias B. Haack and K St{\"o}hr and Gerhard Josef Kluger and Ingo Borggraefe},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2017},
  volume={21 3},
  pages={530-541}
}
OBJECTIVE To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. METHODS Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification, treatment, EEG findings, early… CONTINUE READING