Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS.

Added 411 days ago (22.10.2020)
Authors: Mazzola L, Oliver KL, Labalme A, Baykan B, Muona M, Joensuu TH, Courage C, Chatron N, Borsani G, Alix E, Ramond F, Touraine R, Bahlo M, Bebek N, Berkovic SF, Lehesjoki AE, Lesca G
PubMed id: 33085104
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