Associated Papers
SPTAN1-Results of a Caregiver Survey.
Wilson M et al.
Journal of Child and Adolescent Psychopharmacology, 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
Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy.
Gauquelin L et al.
Movement Disorders Clinical Practice, 2020
Critical roles of αII spectrin in brain development and epileptic encephalopathy.
Wang Y et al.
The Journal of Clinical Investigation, 2018
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J et al.
Journal of Human Genetics, 2015
Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy.
Hamdan FF et al.
European Journal of Human Genetics : Ejhg, 2012
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