Associated Papers
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.
Li X et al.
Frontiers in Pediatrics, 2020
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
Lesca G et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2019
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
Schirwani S et al.
Gene, 2019
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Chen XS et al.
Scientific Reports, 2017
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Slavotinek A et al.
American Journal of Human Genetics, 2015
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
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
Lesca G et al.
Nature Genetics, 2013
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
Gain-of-glycosylation mutations.
Vogt G et al.
Current Opinion in Genetics & Development, 2007
SRPX2 mutations in disorders of language cortex and cognition.
Roll P et al.
Human Molecular Genetics, 2006
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