Saitsu H et al. Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am J Hum Genet. 2010;86(6): 881-91. PMID: 20493457.
Tohyama J et al. SPTAN1 encephalopathy: distinct phenotypes and genotypes. J Hum Genet. 2015; 60(4): 167-73. PMID: 25631096.
Syrbe S et al. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain 2017; 140(9): 2322-36. PMID: 29050398.
Beijer D et al. Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy. Brain 2019; 142(9): 2605-16. PMID 31332438.
Kishimoto K et al. Ketogenic diet for focal epilepsy with SPTAN1 encephalopathy. Epileptic Disord. 2022; 24(4): 726-8. PMID 35925050.
Van de Vondel L et al. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Mov Disord. 2022; 37(6): 1175-86. PMID 35150594.
Morsy H et al. Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia. Genet Med. 2023;25(1): 76-89. PMID: 36331550.
SPTAN1