Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference20 articles.
1. Syrbe S, Harms FL, Parrini E, Montomoli M, Mutze U, Helbig KL, et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain. 2017;140:2322–36.
2. Gartner V, Markello TC, Macnamara E, De Biase A, Thurm A, Joseph L, et al. Novel variants in SPTAN1 without epilepsy: an expansion of the phenotype. Am J Med Genet A. 2018;176:2768–76.
3. Beijer D, Deconinck T, De Bleecker JL, Dotti MT, Malandrini A, Urtizberea JA, et al. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain. 2019;142:2605–16.
4. Dong HL, Chen L, Wu ZY. A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family. Brain. 2021;144:e11.
5. Ylikallio E, Ritari N, Sainio M, Toppila J, Kivirikko S, Tyynismaa H, et al. De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder. Brain. 2020;143:e104.
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