De Novo SPTAN1 Lys2083del Variant in a Korean Patient with Pure Cerebellar Ataxia
Author:
Affiliation:
1. Department of Neurology, Seoul National University Hospital Seoul National University College of Medicine Seoul South Korea
2. Department of Genomic Medicine Seoul National University Hospital Seoul South Korea
Funder
Korea Centers for Disease Control and Prevention
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.29275
Reference5 articles.
1. αII Spectrin Forms a Periodic Cytoskeleton at the Axon Initial Segment and Is Required for Nervous System Function
2. Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
3. SPTAN1 encephalopathy: distinct phenotypes and genotypes
4. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
5. SPTAN1 variants likely cause autosomal recessive complicated hereditary spastic paraplegia
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