@article{d48984bdbe5f4c6ab80e0b940c06cf7e,
title = "De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder",
keywords = "ALPHA-II SPECTRIN, EPILEPSY, SPTAN1, 3112 Neurosciences, 3124 Neurology and psychiatry",
author = "Emil Ylikallio and Niina Ritari and Markus Sainio and Jussi Toppila and Sirpa Kivirikko and Henna Tyynismaa and Mari Auranen and Pirjo Isohanni",
year = "2020",
month = dec,
doi = "10.1093/brain/awaa344",
language = "English",
volume = "143",
journal = "Brain : a journal of neurology",
issn = "0006-8950",
publisher = "Oxford University Press",
}