Associated Papers
Epileptic encephalopathies and progressive neurodegeneration.
Guerrini R et al.
Revue Neurologique, 2024
Spectrins: molecular organizers and targets of neurological disorders.
Lorenzo DN et al.
Nature Reviews. Neuroscience, 2023
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
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S et al.
Brain : a Journal of Neurology, 2017
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