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Quest Diagnostics Patient Service Centers will have modified hours during the holiday season.

  • Closing early at 12:00pm on December 24, 2025
  • Closed on December 25, 2025
  • Closing early at 12:00pm on December 31, 2025
  • Closed on January 1, 2026


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Progressive Myoclonus Epilepsies-Residual Unsolved Cases Have Marked Genetic Heterogeneity Including Dolichol-Dependent Protein Glycosylation Pathway Genes

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Authors: Courage C, Oliver KL, Park EJ, Cameron JM, Grabińska KA, Muona M, Canafoglia L, Gambardella A, Said E, Afawi Z, Baykan B, Brandt C, di Bonaventura C, Chew HB, Criscuolo C, Dibbens LM, Castellotti B, Riguzzi P, Labate A, Filla A, Giallonardo AT, Berecki G, Jackson CB, Joensuu T, Damiano JA, Kivity S, Korczyn A, Palotie A, Striano P, Uccellini D, Giuliano L, Andermann E, Scheffer IE, Michelucci R, Bahlo M, Franceschetti S, Sessa WC, Berkovic SF, Lehesjoki AE.

Am J Hum Genet. 2021 Apr 1;108(4):722-738. doi: 10.1016/j.ajhg.2021.03.013.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics, Neurology

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