Associated Papers
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
36331550 (PubMed )
Supplement: mmc1.pdf
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
Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy.
Beijer D et al.
Brain : a Journal of Neurology, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S et al.
Brain : a Journal of Neurology, 2017
Genome sequencing identifies major causes of severe intellectual disability.
Gilissen C et al.
Nature, 2014
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