@article{527ffa107f584dc59af80ede8c50d53c,
title = "Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS",
keywords = "3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Laure Mazzola and Oliver, {Karen L.} and Audrey Labalme and Betul Baykan and Mikko Muona and Joensuu, {Tarja H.} and Carolina Courage and Nicolas Chatron and Giuseppe Borsani and Eudeline Alix and Francis Ramond and Renaud Touraine and Melanie Bahlo and Nerses Bebek and Berkovic, {Samuel F.} and Anna-Elina Lehesjoki and Gaetan Lesca",
year = "2021",
month = feb,
doi = "10.1002/ana.25941",
language = "English",
volume = "89",
pages = "402--407",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "Wiley",
number = "2",
}