Journal article
SRPX2 mutations in disorders of language cortex and cognition
Patrice Roll, Gabrielle Rudolf, Sandrine Pereira, Barbara Royer, Ingrid E Scheffer, Annick Massacrier, Maria-Paola Valenti, Nathalie Roeckel-Trevisiol, Sarah Jamali, Christophe Beclin, Caroline Seegmuller, Marie-Noëlle Metz-Lutz, Arnaud Lemainque, Marc Delepine, Christophe Caloustian, Anne de Saint Martin, Nadine Bruneau, Danièle Depétris, Marie-Geneviève Mattéi, Elisabeth Flori Show all
Human Molecular Genetics | Oxford University Press (OUP) | Published : 2006
DOI: 10.1093/hmg/ddl035
Abstract
The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent areas participate in speech processing. The relationship of rolandic (sylvian) seizure disorders with speech and cognitive impairments is well known, albeit poorly understood. We have identified the Xq22 gene SRPX2 as being responsible for rolandic seizures (RSs) associated with oral and speech dyspraxia and mental retardation (MR). SRPX2 is a secreted sushi-repeat containing protein expressed in neurons of the human adult brain, including the rolandic area. The disease-causing mutation (N327S) resulted in gain-of-glycosylation of the secreted mutant protein. A second mutation (Y72S) was identified withi..
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