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Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy

Progress in Brain Research, 2014, Vol.213, p.55-85

Hirose, Shinichi

2014

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Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Journal of human genetics, 2021-06, Vol.66 (6), p.569-578

2021

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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Journal of human genetics, 2019-08, Vol.64 (8), p.741-755

2019

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Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Brain & development (Tokyo. 1979), 2012-05, Vol.34 (5), p.337-343

2012

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Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

Epilepsia (Copenhagen), 2019-09, Vol.60 (9), p.1870-1880

2019

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A new paradigm of channelopathy in epilepsy syndromes: Intracellular trafficking abnormality of channel molecules

Epilepsy research, 2006-08, Vol.70, p.206-217

Hirose, Shinichi

2006

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Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

Journal of human genetics, 2013-08, Vol.58 (8), p.548-552

2013

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Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/− mouse model of Dravet syndrome

Scientific reports, 2021-05, Vol.11 (1), p.10634-10634, Article 10634

2021

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Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations

PloS one, 2016-02, Vol.11 (2), p.e0150095-e0150095

2016

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Astrocyte Ca2+ signaling is facilitated in Scn1a+/− mouse model of Dravet syndrome

Biochemical and biophysical research communications, 2023-02, Vol.643, p.169-174

2023

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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Scientific reports, 2022-05, Vol.12 (1), p.6505-6505, Article 6505

2022

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Application of induced pluripotent stem cells in epilepsy

Molecular and cellular neuroscience, 2020-10, Vol.108, p.103535-103535, Article 103535

2020

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Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation

Brain & development (Tokyo. 1979), 2020-01, Vol.42 (1), p.73-76

2020

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Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

Brain & development (Tokyo. 1979), 2009-11, Vol.31 (10), p.758-762

2009

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Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons

Human molecular genetics, 2021-06, Vol.30 (14), p.1337-1348

2021

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SCN8A encephalopathy: Research progress and prospects

Epilepsia (Copenhagen), 2016-07, Vol.57 (7), p.1027-1035

2016

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Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

PloS one, 2013-02, Vol.8 (2), p.e56120-e56120

2013

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miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation

Scientific reports, 2019-03, Vol.9 (1), p.3445-3445, Article 3445

2019

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Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

Epilepsia (Copenhagen), 2010-04, Vol.51 (4), p.655-670

2010

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Current status of newborn screening for Pompe disease in Japan

Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.516-516, Article 516

2021

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Clinical spectrum of SCN2A mutations

Brain & development (Tokyo. 1979), 2012-08, Vol.34 (7), p.541-545

2012

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DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation

International journal of molecular sciences, 2021-04, Vol.22 (8), p.3985

2021

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Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

Journal of human genetics, 2019-11, Vol.64 (11), p.1097-1106

2019

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Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

Stem cell research, 2020-08, Vol.47, p.101857-101857, Article 101857

2020

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Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

Brain & development (Tokyo. 1979), 2018-08, Vol.40 (7), p.576-581

2018

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Mutant GABAA receptor subunits in genetic (idiopathic) epilepsy

Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Epidemiology of acute encephalopathy in Japan, with emphasis on the association of viruses and syndromes

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

A new paradigm of channelopathy in epilepsy syndromes: Intracellular trafficking abnormality of channel molecules

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

Inhibitory synaptic transmission is impaired at higher extracellular Ca2+ concentrations in Scn1a+/− mouse model of Dravet syndrome

Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations

Astrocyte Ca2+ signaling is facilitated in Scn1a+/− mouse model of Dravet syndrome

CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate

Application of induced pluripotent stem cells in epilepsy

Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons

SCN8A encephalopathy: Research progress and prospects

Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients

miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation

Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

Current status of newborn screening for Pompe disease in Japan

Clinical spectrum of SCN2A mutations

DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel

Establishment of human induced pluripotent stem cells derived from skin cells of a patient with Dravet syndrome

Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report

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