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Network Analysis of Foramen Ovale Electrode Recordings in Drug-resistant Temporal Lobe Epilepsy Patients
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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

D Quelhas1,2, J Jaeken3, A Fortuna4,5

  • 1Unidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar do Porto, Porto, Portugal. dulce.quelhas@chporto.min-saude.pt.

JIMD Reports
|June 21, 2018
PubMed

Keywords:
CDGCongenital disorder(s) of glycosylationDeafnessPhenotypeRFT1

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