Publications by authors named "John F Mantovani"
Article Synopsis
- * Researchers identified 32 individuals with microcephaly, neurodevelopmental issues, and other neurological symptoms due to mutations in NARS1, revealing reduced levels of NARS1 mRNA and enzyme activity in affected cells.
- * The study suggests that these mutations lead to neurodevelopmental diseases through mechanisms like toxic gain-of-function for new mutations and partial loss-of-function for recessive mutations.
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients.
View Article and Find Full Text PDFAlexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique characteristics, and whose mutations have implications for AxD diagnosis and studies of intermediate filaments. Patient 1 is the first reported case with a noncoding mutation.
View Article and Find Full Text PDFDefinition and classification of CP: medical-legal and service implications.
Dev Med Child Neurol Suppl
February 2007
Purpose: To determine if rituximab, an anti-CD20 monoclonal antibody, reduces cerebrospinal fluid (CSF) B-cell expansion in opsoclonus-myoclonus syndrome (OMS) and results in clinical improvement.
Methods: Sixteen children with OMS and increased % CD20 B-cells in CSF received 4 rituximab infusions (375 mg/m IV) as add-on therapy to corticotropin (ACTH), intravenous immunoglobulins, or both, and were reevaluated 6 months later. Outcome measures were clinical (motor function, behavior, sleep) and immunologic (CSF and blood immunophenotype and Ig levels).