Varaico: Literature-Extracted Genetic Variants

Gene:SPTAN1
Variant:p.R1098S
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SPTAN1

NM_001130438.3:p.R1098S

Associated Papers

Axon initial segment damage and hyperexcitability in a mutant mouse with increased calpain-dependent cleavage of αII-Spectrin.

Hobbib RL et al.

Neurobiology of Disease, 2025

Spectrins: molecular organizers and targets of neurological disorders.

Lorenzo DN et al.

Nature Reviews. Neuroscience, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."