Publications by authors named "Kouya Uchino"

Article Synopsis
  • Dravet syndrome (DS) is a severe form of epilepsy that starts in infancy and is often linked to mutations in the SCN1A gene, which is crucial for sodium channels in brain neurons.
  • This study investigates the role of astrocytes, a type of brain cell, in DS by examining calcium signaling in genetically modified mice with SCN1A mutations.
  • The findings reveal that these astrocytes exhibit altered calcium signaling dynamics, suggesting that changes in astrocyte function may contribute to the development of Dravet syndrome.
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Although astrocytes are involved in the pathogenesis of CNS diseases, how they induce synaptic abnormalities is unclear. Currently, pathological astrocyte cultures or animal models do not reproduce human disease phenotypes accurately. Induced pluripotent stem cells (iPSCs) are replacing animal models in pathological studies.

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Dravet syndrome (DS) is an intractable form of childhood epilepsy that occurs in infancy. More than 80% of all patients have a heterozygous abnormality in the SCN1A gene, which encodes a subunit of Na channels in the brain. However, the detailed pathogenesis of DS remains unclear.

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