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Early infantile epileptic encephalopathy with suppression-burst pattern (EIEE) is one of the most severe and earliest forms of epilepsy, often evolving into West syndrome; however, the pathogenesis of EIEE remains unclear. ARX is a crucial gene for the development of interneurons in the fetal brain, and a polyalanine expansion mutation of ARX causes mental(More)
Possible Dirichlet boundary states for WZW models with untwisted affine super Kac-Moody symmetry are classified for all compact simple Lie groups. They are obtained by inner-and outer-automorphism of the group. D-brane world-volume turns out to be a group manifold of a symmetric subgroup, so that the moduli space of D-brane is a irreducible Riemannian(More)
X-linked lissencephaly with abnormal genitalia is the first human disorder in which deficient tangential migration in the brain has been demonstrated. Male patients with X-linked lissencephaly with abnormal genitalia show intractable seizures, especially clonic convulsions or myoclonus from the first day of life, but neither infantile spasms nor(More)
Heterotrimeric G proteins, composed of α, β, and γ subunits, can transduce a variety of signals from seven-transmembrane-type receptors to intracellular effectors. By whole-exome sequencing and subsequent mutation screening, we identified de novo heterozygous mutations in GNAO1, which encodes a Gαo subunit of heterotrimeric G proteins, in four individuals(More)
It is known that the noncommutativity of D-brane coordinate is responsible for describing the higher-dimensional D-branes in terms of more fundamental ones such as D-particles or D-instantons, while considering a noncommutative torus as a target space is conjectured to be equivalent to introducing the background antisymmetric tensor field in matrix models.(More)
  • Katsumi Itoh, Mitsuhiro Kato, Michika Murata, Hideyuki Sawanaka, Hiroto So
  • 2004
We present a new formulation of the staggered fermion on the D-dimensional lattice based on the SO(2D) Clifford algebra, which is naturally present in the action. The action of the massless staggered fermion is invariant under the discrete rotation and the SO(2D) chiral and other discrete transformations. From transformation properties of the fermion, we(More)
Syntaxin-binding protein 1 (STXBP1) is essential for synaptic vesicle exocytosis. Mutations of its encoding gene, STXBP1, are among the most frequent genetic causes of epileptic encephalopathies. However, the precise pathophysiology of STXBP1 haploinsufficiency has not been elucidated. Using patient-derived induced pluripotent stem cells (iPSCs), we aimed(More)
Migration of post-mitotic neurons from the ventricular zone to the cortical plate during embryogenesis comprises one of the most critical stages in brain development. Deficiency of this process often results in major brain malformations, including human lissencephaly (smooth brain). Since discovery of the first genetic cause of lissencephaly, deletions of(More)
X-linked lissencephaly with abnormal genitalia (XLAG) is characterized by lissencephaly, absent corpus callosum and ambiguous genitalia. We examined hypothalamic dysfunctions in a XLAG case with a novel mutation of the ARX gene, and performed immunohistochemical evaluation of the diencephalons in autopsy brain. A 1-year-old boy showed intractable epilepsy,(More)