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Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS

Progressive myoclonus epilepsy caused by a homozygous splicing variant of SLC7A6OS

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.

Ann Neurol. 2020 Oct 21. doi: 10.1002/ana.25941. Online ahead of print.

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