Associated Papers
Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.
Lu PN et al.
Clinical Genetics, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36331550 (PubMed )
Supplement: mmc1.pdf
SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia.
Xie F et al.
Journal of Human Genetics, 2022
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Leveille E et al.
Journal of Human Genetics, 2019
Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics.
Helbig I et al.
Epilepsia, 2018
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