Associated Papers
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
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Marco Hernández AV et al.
American Journal of Medical Genetics. Part A, 2022
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Beijer D et al.
Brain : a Journal of Neurology, 2019
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S et al.
Brain : a Journal of Neurology, 2017
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J et al.
Journal of Human Genetics, 2015
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
Hamdan FF et al.
European Journal of Human Genetics : Ejhg, 2012
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