Associated Papers
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
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy.
Rapaccini V et al.
International Journal of Molecular Sciences, 2018
Critical roles of αII spectrin in brain development and epileptic encephalopathy.
Wang Y et al.
The Journal of Clinical Investigation, 2018
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S et al.
Brain : a Journal of Neurology, 2017
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J et al.
Journal of Human Genetics, 2015
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.
Saitsu H et al.
American Journal of Human Genetics, 2010
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