Associated Papers
The genotype-phenotype correlations of the CACNA1A-related neurodevelopmental disorders: a small case series and literature reviews.
Kessi M et al.
Frontiers in Molecular Neuroscience, 2023
37555011 (PubMed )
Supplement: Table_8.docx
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
27572814 (PubMed )
Supplement: kuperberg_supp.pdf
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.
Blumkin L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
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