Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.

@article{Molinari2009MutationsIT,
  title={Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts.},
  author={Florence Molinari and Anna Maria Kaminska and Giuseppe Fiermonte and Nathalie Boddaert and Annick Raas-Rothschild and Perrine Plouin and Luigi Palmieri and Francis Brunelle and Ferdinando Palmieri and Oliver Dulac and Arnold Munnich and Laurence Colleaux},
  journal={Clinical genetics},
  year={2009},
  volume={76 2},
  pages={188-94}
}
Neonatal epileptic encephalopathies with suppression bursts (SBs) are very severe and relatively rare diseases characterized by neonatal onset of seizures, interictal electroencephalogram (EEG) with SB pattern and very poor neurological outcome or death. Their etiology remains elusive but they are occasionally caused by metabolic diseases or malformations. Studying an Arab Muslim Israeli consanguineous family, with four affected children presenting a severe neonatal epileptic encephalopathy, we… CONTINUE READING

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