This website provides information on patients with mutations in the NSRP1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the NSRP1 gene is characterized by developmental delay, intellectual disability, hypotonia, spasticity, epilepsy, microcephaly, dysphagia, and dysmorphic facies. Brain imaging may demonstrate a simplified gyral pattern, underopercularization, cerebellar vermian hypoplasia, corpus callosal dysgenesis, and/or thin brainstem. Patients may have clinical diagnoses of spastic cerebral palsy and developmental and epileptic encephalopathy.
Not all individuals with a mutation in the NSRP1 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NSRP1 gene.
Daniel Calame, MD, PhD, Baylor College of Medicine, Houston, TX, USA, Daniel.firstname.lastname@example.org
James R. Lupski, MD, PhD, Baylor College of Medicine, Houston, TX, USA, email@example.com