Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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
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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