|
| 37650965 | Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response. | Mol Neurobiol | 2024 |
| 36089257 | Potential usage of anterior nasal sampling in clinical practice with three rapid antigen tests for SARS-CoV-2. | J Infect Chemother | 2023 |
| 37219072 | <i>Scn1a</i>-GFP transgenic mouse revealed Nav1.1 expression in neocortical pyramidal tract projection neurons. | Elife | 2023 |
| 35916866 | De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations. | Genet Med | 2022 |
| 35581205 | CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate. | Sci Rep | 2022 |
| 35667888 | Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder. | Biol Psychiatry | 2022 |
| 33348080 | Decrease in the T-box1 gene expression in embryonic brain and adult hippocampus of down syndrome mouse models. | Biochem Biophys Res Commun | 2021 |
| 33913524 | Genome-wide association study of epilepsy in a Japanese population identified an associated region at chromosome 12q24. | Epilepsia | 2021 |
| 34510432 | Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice. | Epilepsia | 2021 |
| 34104969 | Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state. | Hum Mol Genet | 2021 |
| 31206867 | Perturbation of the immune cells and prenatal neurogenesis by the triplication of the Erg gene in mouse models of Down syndrome. | Brain Pathol | 2020 |
| 33256836 | Down syndrome cell adhesion molecule like-1 (DSCAML1) links the GABA system and seizure susceptibility. | Acta Neuropathol Commun | 2020 |
| 33279929 | Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder. | Transl Psychiatry | 2020 |
| 33328576 | Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain. | Sci Rep | 2020 |
| 32917586 | DSCAM regulates delamination of neurons in the developing midbrain. | Sci Adv | 2020 |
| 32843708 | Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABA<sub>B</sub> receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice. | Sci Rep | 2020 |
| 32448815 | Combination of procedure for ultra rapid extraction (PURE) and loop-mediated isothermal amplification (LAMP) for rapid detection of Mycoplasma bovis in milk. | J Vet Med Sci | 2020 |
| 32530565 | A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. | Ann Clin Transl Neurol | 2020 |
| 32445790 | CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice. | Neurobiol Dis | 2020 |
| 32178446 | Airway Ciliary Beating Affected by the <i>Pcp4</i> Dose-Dependent [Ca<sup>2+</sup>]<sub>i</sub> Increase in Down Syndrome Mice, Ts1Rhr. | Int J Mol Sci | 2020 |
| 30660502 | Copper accumulation in the brain causes the elevation of oxidative stress and less anxious behavior in Ts1Cje mice, a model of Down syndrome. | Free Radic Biol Med | 2019 |
| 30813884 | Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes. | Mol Med | 2019 |
| 31015467 | Impaired cortico-striatal excitatory transmission triggers epilepsy. | Nat Commun | 2019 |
| 30962870 | <i>Scn2a</i> haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity. | Mol Autism | 2019 |
| 30605686 | Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. | Cell Rep | 2019 |
| 30487643 | De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies. | Eur J Hum Genet | 2019 |
| 30673603 | Augmented Reticular Thalamic Bursting and Seizures in Scn1a-Dravet Syndrome. | Cell Rep | 2019 |
| 29223763 | DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures. | Neurobiol Dis | 2018 |
| 29867081 | Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene. | Nat Neurosci | 2018 |
| 30208311 | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Cell Rep | 2018 |
| 30176532 | [<sup>18</sup>F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome. | Epilepsy Res | 2018 |
| 30175250 | Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice. | Commun Biol | 2018 |
| 29539279 | Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. | N Engl J Med | 2018 |
| 29485402 | Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice. | Elife | 2018 |
| 29337050 | Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells. | Neurobiol Dis | 2018 |
| 27467453 | EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. | Genet Med | 2017 |
| 28336394 | Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism. | Exp Neurol | 2017 |
| 29040524 | Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency. | Hum Mol Genet | 2017 |
| 28784306 | Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2. | Biochem Biophys Res Commun | 2017 |
| 28069794 | Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction. | Hum Mol Genet | 2017 |
| 27473368 | The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex. | Dev Psychobiol | 2017 |
| 26133964 | Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes. | J Drug Target | 2016 |
| 26841829 | Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. | J Hum Genet | 2016 |
| 24819914 | Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome. | Brain Dev | 2015 |
| 25481361 | Molecular characterization of Cryptosporidium parvum from two different Japanese prefectures, Okinawa and Hokkaido. | Parasitol Int | 2015 |
| 24502503 | Long-term course of Dravet syndrome: a study from an epilepsy center in Japan. | Epilepsia | 2014 |
| 25413837 | Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum. | Nat Commun | 2014 |
| 25261685 | Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome. | Neuroscience | 2014 |
| 25047565 | Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures. | Nat Commun | 2014 |
| 24924645 | In response to terminology and prognosis of Dravet syndrome. | Epilepsia | 2014 |