Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Schirwani S et al.
Gene, 2019
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler EM et al.
Epilepsia, 2014
Genetics, molecular biology, and phenotypes of x-linked epilepsy.
Deng H et al.
Molecular Neurobiology, 2014
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.
Salmi M et al.
Brain : a Journal of Neurology, 2013
SRPX2 is a novel chondroitin sulfate proteoglycan that is overexpressed in gastrointestinal cancer.
Tanaka K et al.
Plos One, 2012
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.
Royer-Zemmour B et al.
Human Molecular Genetics, 2008
Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas.
Royer B et al.
Bmc Genetics, 2007
SRPX2 mutations in disorders of language cortex and cognition.
Roll P et al.
Human Molecular Genetics, 2006
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