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

doi:10.1016/j.ajhg.2021.03.013

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Article

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

American journal of human genetics - 1 Apr 2021

Courage Carolina, Oliver Karen L, Park Eon Joo, Cameron Jillian M, Grabińska Kariona A, Muona Mikko, Canafoglia Laura, Gambardella Antonio, Said Edith, Afawi Zaid, Baykan Betul, Brandt Christian, di Bonaventura Carlo, Chew Hui Bein, Criscuolo Chiara, Dibbens Leanne M, Castellotti Barbara, Riguzzi Patrizia, Labate Angelo, Filla Alessandro, Giallonardo Anna T, Berecki Geza, Jackson Christopher B, Joensuu Tarja, Damiano John A, Kivity Sara, Korczyn Amos, Palotie Aarno, Striano Pasquale, Uccellini Davide, Giuliano Loretta, Andermann Eva, Scheffer Ingrid E, Michelucci Roberto, Bahlo Melanie, Franceschetti Silvana, Sessa William C, Berkovic Samuel F, Lehesjoki Anna-Elina

Abstract excerpt

Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencing (WES) in 84 (78 unrelated) unsolved PME-affected individuals, with or without additional family members, to...

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PMID: 33798445
DOI: 10.1016/j.ajhg.2021.03.013
PMCID: PMC8059372

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