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Background
Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy.
Objectives
We investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia.
Methods
We screened 10,000 NGS datasets across two international...
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