A number of studies clearly indicated that genetic backgrounds largely contribute to the pathogenesis of epilepsy and neurodevelopmental disorders, and actually recent developments of techniques in molecular genetics have identified a number of genes responsible for those diseases. Our research group has been working on the identification of those genes, making of disease model mice and the understanding of disease mechanisms by analyzing those models, and further trying to develop effective therapies including gene therapies to treat such diseases (Yamakawa group). We are also studying rheumatoid arthritis interstitial pneumonia (Kanazawa group).
- (Yamakawa Group)
- Impaired Cortico-Striatal Excitatory Transmission Triggers Epilepsy. Nat Commun 10:1917 (2019)
- Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity. Mol Autism 10:15 (2019)
- Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice. Commun Biol 1, Article number 96 (2018)
- Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene. Nat Neurosci 21 (7):996-1003(2018)
- Variant intestinal cell kinase in juvenile myoclonic epilepsy. New Eng J Med 378:1018-28 (2018)
- (Kanazawa Group)
- A Subpopulation of Synovial Fibroblasts Leads to Osteochondrogenesis in a Mouse Model of Chronic Inflammatory Rheumatoid Arthritis. JBMR Plus 3(6):e10132 (2019).