S. Hirose

发表

Altered automatic face processing in individuals with high-functioning autism spectrum disorders: Evidence from visual evoked potentials

S. Tobimatsu, Y. Kamio, T. Yamasaki, 2013 .

Variant Intestinal‐Cell Kinase in Juvenile Myoclonic Epilepsy

M. T. Medina, Viet-Huong V. Nguyen, K. Yamakawa, 2018, The New England journal of medicine.

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

I. Scheffer, Í. Lopes-Cendes, H. Lerche, 2010, Epilepsia.

Y. Maegaki, S. Hirose, Yoshiaki Saito, 2018, Brain and Development.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

Joseph Watkins, R. Macdonald, Jing-Qiong Kang, 2016, Journal of Medical Genetics.

Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

H. Oguni, Kazuyoshi Watanabe, A. Mitsudome, 2004, Epilepsia.

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation

Y. Cho, Y. Makita, H. Kurahashi, 2011, Journal of Human Genetics.

X-Linked mental retardation and epilepsy: pathogenetic significance of ARX mutations

A. Mitsudome, S. Hirose, 2003, Brain and Development.

Intermediate form between alternating hemiplegia of childhood and rapid‐onset dystonia–parkinsonism

M. Sasaki, S. Hirose, Yoshiaki Saito, 2014, Movement disorders : official journal of the Movement Disorder Society.

IgG subclasses and complement pathway in segmental and global membranous nephropathy

T. Fujita, M. Matsushita, H. Iwasaki, 2010, Pediatric Nephrology.

Progressive Brain Atrophy in Alternating Hemiplegia of Childhood

M. Sasaki, S. Hirose, Yoshiaki Saito, 2017, Movement disorders clinical practice.

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

S. Tsuji, S. Morishita, H. Ishiura, 2013, PloS one.

Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.

S. Hirose, 2014, Progress in brain research.

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

S. Takashima, Y. Misumi, Kazuyoshi Watanabe, 2014, Epilepsy Research.

Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus

H. Kurahashi, S. Hirose, A. Kumakura, 2009, Brain and Development.

Genetics of temporal lobe epilepsy

S. Hirose, Su-Kyeong Hwang, 2012, Brain and Development.

Hepatocellular apoptosis associated with cytotoxic T/natural killer‐cell infiltration in chronic active EBV infection

K. Karube, K. Ohshima, S. Hirose, 2009, Pathology international.

Estimation of the relationship between caspase‐3 expression and clinical outcome of Burkitt's and Burkitt‐like lymphoma

K. Karube, K. Ohshima, T. Yoshino, 2008, Cancer science.

Estimation of apoptosis and cell proliferation in histiocytic necrotizing lymphadenitis using immunohistochemical double staining

K. Karube, K. Ohshima, M. Kikuchi, 2008, Pathology international.

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR) caused by a VDR mutation: A novel mechanism of dominant inheritance

M. Makishima, S. Kitanaka, S. Hirose, 2015, Bone reports.

Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus–Merzbacher disease patient with a partial PLP1 duplication

Toshiyuki Yamamoto, T. Fujita, S. Yasumoto, 2012, Journal of Human Genetics.

Multicentric glioblastoma in a 4-year-old female patient: A case report.

H. Abe, K. Nabeshima, M. Aoki, 2021, Molecular and clinical oncology.

Surgical versus medical treatment for children with epileptic encephalopathy in infancy and early childhood: Results of an international multicenter cohort study in Far-East Asia (the FACE study)

Katsuhiro Kobayashi, Seung-Chyul Hong, S. Kameyama, 2016, Brain and Development.

Clinical analysis of catastrophic epilepsy in infancy and early childhood: Results of the Far-East Asia Catastrophic Epilepsy (FACE) study group

Katsuhiro Kobayashi, A. Takahashi, Seung-Chyul Hong, 2013, Brain and Development.

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency

A. Okumura, Toshiaki Shimizu, S. Hirose, 2012, Brain and Development.

JNK is critical for the development of Candida albicans-induced vascular lesions in a mouse model of Kawasaki disease.

Yumi Yamamoto, Toshimichi Yoshida, S. Hirose, 2015, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Clinical spectrum of SCN2A mutations

H. Kurahashi, E. Nakagawa, S. Yasumoto, 2012, Brain and Development.

Genome-wide identification of febrile seizure and related epilepsy phenotype loci

A. Miyashita, R. Kuwano, T. Kojima, 2008 .

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

H. Oguni, A. Mitsudome, H. Iwasa, 2004, Neurology.

A Case of SLE in a Young Boy

S. Imafuku, J. Nakayama, S. Hirose, 2011 .

Electroclinical Picture of Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Japanese Family

A. Mitsudome, T. Okuno, S. Hirose, 2000, Epilepsia.

ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus

J. Takanashi, T. Shiihara, M. Kikuchi, 2013, Neurology.

Four-year experience with prenatal diagnosis of congenital heart defects at a single referral center in Japan with focus on inaccurately diagnosed cases

S. Miyamoto, T. Yoshizato, S. Hirose, 2012, Journal of medical ultrasonics.

Late‐onset ornithine transcarbamylase deficiency in male patients: Prognostic factors and characteristics of plasma amino acid profile

R. Kumashiro, R. Kuromaru, N. Kuriya, 2006, Pediatrics international : official journal of the Japan Pediatric Society.

Fas-Deficient Target Cells Perforin-Deficient Effector Cells and Using the Combination of Hereditary T Lymphocytes: Analysis + Human CD4 Antigen-Specific Cytotoxicity Mediated by Essential Roles of Perforin in

K. Sayama, K. Hashimoto, K. Kojima, 2013 .

Essential Roles of Perforin in Antigen-Specific Cytotoxicity Mediated by Human CD4+ T Lymphocytes: Analysis Using the Combination of Hereditary Perforin-Deficient Effector Cells and Fas-Deficient Target Cells 1

K. Sayama, Y. Shirakata, K. Hashimoto, 2003, The Journal of Immunology.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Masahiro Ito, Wang-Tso Lee, T. Fujita, 2013, Brain and Development.

Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor

J. Yamada, K. Wakabayashi, F. Mori, 2015, Neuroscience Research.

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

H. Kurahashi, S. Hirose, 2015 .

Diagnosing nocturnal frontal lobe epilepsy: A case study of two children

A. Mitsudome, T. Fujita, S. Yasumoto, 2011, Seizure.

Predicting Very Severe Kawasaki Disease Who Does Not Respond to Initial Steroid Combination Therapy: A Prospective Cohort Study

S. Hirose, Tatsuki Miyamoto, A. Ogawa, 2020 .

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

M. Mizuguchi, K. Kikuchi, M. Kubota, 2015, Epilepsy Research.

Clinical and genetic features of acute encephalopathy in children taking theophylline

M. Mizuguchi, K. Kikuchi, M. Kubota, 2015, Brain and Development.

On the likelihood of SCN1A microdeletions or duplications in Dravet syndrome with missense mutation

H. Kurahashi, N. Higurashi, S. Hirose, 2012, Brain and Development.

Mutations of the SCN1A gene in acute encephalopathy

M. Mizuguchi, M. Kubota, S. Hirose, 2012, Epilepsia.

Seizure phenotypes of a family with missense mutations in SCN2A.

K. Yamakawa, S. Hirose, Y. Shirasaka, 2004, Pediatric neurology.

A case of recurrent encephalopathy with SCN2A missense mutation

M. Mizuguchi, T. Negoro, S. Hirose, 2015, Brain and Development.

Clinical spectrum of SCN 2 A mutations

H. Kurahashi, E. Nakagawa, S. Yasumoto, 2012 .

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

E. Nakagawa, S. Yasumoto, S. Hirose, 2009, Brain and Development.

Positive association between benign familial infantile convulsions and LGI4

S. Kaneko, B. Zhang, S. Hirose, 2010, Brain and Development.

SCN1A testing for epilepsy: Application in clinical practice

I. Scheffer, S. Sisodiya, S. Berkovic, 2013, Epilepsia.

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizures

M. Sasaki, S. Hirose, K. Sugai, 2017, Clinical genetics.

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

J. Inazawa, K. Moriyama, S. Hirose, 2019, Journal of Human Genetics.

Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome

M. Hammer, Joseph Watkins, S. Hirose, 2017, Epilepsia.

A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

M Montal, K. Yamakawa, K. Agarwala, 2001, Proceedings of the National Academy of Sciences of the United States of America.

Phenotypes and genotypes in epilepsy with febrile seizures plus

K. Yamakawa, S. Hirose, S. Kaneko, 2006, Epilepsy Research.

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A

K. Yamakawa, H. Okazawa, H. Okazawa, 2002, Epilepsy Research.

Current Trends in Dravet syndrome Research

H. Okano, N. Higurashi, S. Hirose, 2013 .

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

Takeshi Yoshida, Toshiyuki Yamamoto, S. Kure, 2018, American journal of medical genetics. Part A.

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy.

H. Ikeda, N. Higurashi, Y. Inoue, 2016, Epileptic disorders : international epilepsy journal with videotape.

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies

T. Kojima, M. Okada, S. Kaneko, 2010, Journal of Human Genetics.

Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation

Hisako W. Yamamoto, S. Hirose, A. Ishii, 2019, Brain and Development.

The KickIn System : A Novel Rapid KnockIn Strategy

J. Yamada, A. Kakita, K. Wakabayashi, 2015 .

The Kick-In System: A Novel Rapid Knock-In Strategy

J. Yamada, H. Kitaura, A. Kakita, 2014, PloS one.

Efficacy and tolerability of perampanel in pediatric patients with Dravet syndrome

Y. Inoue, S. Hirose, Yukitoshi Takahashi, 2019, Epilepsy Research.

Mortality in Dravet syndrome: Search for risk factors in Japanese patients

H. Oguni, M. Ōsawa, T. Fujiwara, 2011, Epilepsia.

Heart rate variability in a patient with alternating hemiplegia.

T. Nakashima, S. Hirose, A. Ishii, 2019, Intractable & rare diseases research.

Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene

H. Shiraishi, S. Kohsaka, N. Asahina, 2017, Brain and Development.

Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

L. Zou, S. Hirose, A. Ishii, 2016, Orphanet Journal of Rare Diseases.

The effectiveness of intravenous benzodiazepine for status epilepticus in Dravet syndrome

S. Hirose, S. Hamano, A. Daida, 2022, Brain and Development.

A novel SCN1A mutation in a cytoplasmic loop in intractable juvenile myoclonic epilepsy without febrile seizures.

A. Ikeda, R. Matsumoto, R. Takahashi, 2014, Epileptic disorders : international epilepsy journal with videotape.

Hemiconvulsion–hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

H. Kurahashi, M. Sasaki, E. Nakagawa, 2009, Epilepsia.

A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1.

S. Hirose, K. Hamamoto, M. Yoshinaga, 2013, Heart rhythm.

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

M. Ōsawa, A. Okumura, H. Kidokoro, 2013, Gene.

The effect of SCN1A mutations on patient-derived GABAergic neurons: what are the implications for future Dravet syndrome therapeutics?

H. Okano, N. Higurashi, S. Hirose, 2013 .

Establishment of autaptic culture with human-induced pluripotent stem cell-derived astrocytes

S. Hirose, S. Katsurabayashi, K. Iwasaki, 2022, iScience.

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

K. Ihara, S. Hirose, A. Ishii, 2013, Journal of Human Genetics.

Histological characteristics of 21 Papua New Guinean children with high‐grade B‐cell lymphoma, which is frequently associated with EBV infection

K. Ohshima, T. Yoshino, M. Kikuchi, 2008, Pathology international.

Abnormal γ‐aminobutyric acid neurotransmission in a Kcnq2 model of early onset epilepsy

Y. Yanagawa, S. Hirose, Christoph Lossin, 2017, Epilepsia.

Prenatal Diagnosis of High Grade Atrioventricular Block with Polymorphic Ventricular Premature Contractions due to Congenital Long QT Syndrome Using Doppler Flow Recording

S. Miyamoto, T. Yoshizato, S. Hirose, 2013 .

Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy

T. Fujita, S. Yasumoto, S. Hirose, 2014, Brain and Development.

Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

Toshiyuki Yamamoto, T. Fujita, S. Hirose, 2020, Congenital anomalies.

Neuronal Compensation and Plasticity in the Brains of Children with Remote Periventricular Leukomalacia

T. Kodama, S. Takashima, S. Hirose, 2009 .

Tissue Remodeling in Vascular Wall in Kawasaki Disease-Related Vasculitis Model Mice

Yumi Yamamoto, S. Hirose, H. Aoki, 2016 .

Survival and late effects on development of patients with infantile brain tumor

T. Fukushima, S. Yasumoto, S. Hirose, 2009, Pediatrics international : official journal of the Japan Pediatric Society.

Development and Aging Expression of Cystathionine-Beta Synthase in the Temporal Lobe and Cerebellum of Down Syndrome Patients

H. Iwasaki, S. Takashima, S. Hirose, 2006, Neuroembryology and Aging.

Impact and issues of detecting fetal congenital heart defects in Kyushu, Japan

T. Yoshizato, Y. Maeno, S. Hirose, 2011, The journal of obstetrics and gynaecology research.

International Symposium on Epilepsy in Neurometabolic Diseases (ISENMD)

S. Hirose, 2011, Brain and Development.

Determinants of surgical repair of patent ductus arteriosus in low-birth-weight infants

T. Yoshizato, Toshiko Mori, S. Hirose, 2011, Journal of Medical Ultrasonics.

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

Kyoko Takano, N. Higurashi, S. Hirose, 2015, Seizure.

Proceedings of the 69th General Meeting from April 11–13, 1983-Osaka, Japan

M. Makuuchi, T. Takada, H. Hasegawa, 1984, Gastroenterologia Japonica.

Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis

A. Mitsudome, M. Okada, S. Kaneko, 2000, Epilepsy Research.

Pharmacological discrimination of protein kinase associated exocytosis mechanisms between dopamine and 3,4-dihydroxyphenylalanine in rat striatum using in vivo microdialysis

M. Okada, S. Kaneko, S. Hirose, 2004, Neuroscience Letters.

Novel HCN2 Mutation Contributes to Febrile Seizures by Shifting the Channel's Kinetics in a Temperature-Dependent Manner

T. Baram, Y. Mori, T. Numata, 2013, PloS one.

Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness

K. Arita, T. Otsubo, R. Hanaya, 2016, Epilepsy & Behavior Case Reports.

Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

A. Konagaya, H. Kurahashi, T. Kojima, 2008, Epilepsia.

KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2

H. Kurahashi, S. Yasumoto, S. Hirose, 2012, Epilepsy Research.

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population

K. Yamakawa, S. Ganesh, Y. Inoue, 2005, Journal of Human Genetics.

Protein kinase associated with gating and closing transmission mechanisms in temporoammonic pathway

M. Okada, S. Kaneko, S. Hirose, 2004, Neuropharmacology.

Exocytosis mechanism as a new targeting site for mechanisms of action of antiepileptic drugs.

M. Okada, K. Kanai, S. Kaneko, 2002, Life sciences.

Application of induced pluripotent stem cells in epilepsy

Mami Shibata, N. Higurashi, Toshiyuki Yamamoto, 2020, Molecular and Cellular Neuroscience.

A G to A transition at the last nucleotide of exon 6 of the γc gene (868G→A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency

K. Izuhara, T. Tani, A. Mitsudome, 1999, Human Genetics.

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome

M. Hammer, Joseph Watkins, S. Hirose, 2017, PloS one.

Newborn screening for Fabry disease in the western region of Japan

F. Endo, S. Hirose, Takahito Inoue, 2020, Molecular genetics and metabolism reports.

Current status of newborn screening for Pompe disease in Japan

F. Endo, S. Ohga, S. Hirose, 2021, Orphanet Journal of Rare Diseases.

Pleomorphic Adenoma of the Submandibular Gland in Children: A Case Report and a Review of the Japanese Literature

K. Yoshimitsu, N. Sakata, S. Hirose, 2012, Journal of pediatric hematology/oncology.

Genetics of epilepsy: current status and perspectives

Shinichi Hirose, Motohiro Okada, K. Yamakawa, 2002, Neuroscience Research.

Review article Genetics of epilepsy: current status and perspectives

K. Yamakawa, M. Okada, H. Iwasa, 2002 .

New Genes for Epilepsy–Autism Comorbidity

S. Hirose, A. Ishii, 2017, Journal of Pediatric Neurology.

miR-124 dosage regulates prefrontal cortex function by dopaminergic modulation

Y. Yoshimura, T. Hikida, Y. Ohkawa, 2019, Scientific Reports.

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

H. Okano, Y. Uehara, S. Hirose, 2021, International journal of molecular sciences.

Ring Chromosome 20 Syndrome and Epilepsy

S. Hirose, A. Ishii, 2015, Journal of Pediatric Epilepsy.

Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene.

K. Yamakawa, S. Ganesh, S. Hirose, 2001, Molecular and cellular probes.

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

N. Shirasu, N. Higurashi, S. Hirose, 2020, Stem cell research.

Establishment of a human induced stem cell line (FUi002-A) from Dravet syndrome patient carrying heterozygous R1525X mutation in SCN1A gene.

H. Okano, N. Shirasu, N. Higurashi, 2018, Stem cell research.

Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.

Michael R. Johnson, G. Carvill, C. Reid, 2020, Epileptic disorders : international epilepsy journal with videotape.

Genetics and gene therapy in Dravet syndrome

V. Broccoli, N. Higurashi, S. Hirose, 2021, Epilepsy & Behavior.

SCN8A encephalopathy: Research progress and prospects

A. L. Goldin, Jacy L. Wagnon, M. Hammer, 2016, Epilepsia.

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

T. Kojima, S. Kuwabara, H. Oguni, 2009, Journal of Medical Genetics.

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

S. Hirose, 2006, Epilepsy Research.

The genetics of febrile seizures and related epilepsy syndromes

R. Mohney, A. Mitsudome, M. Okada, 2003, Brain and Development.

Molecular Genetics of Human Familial Epilepsy Syndromes

A. Mitsudome, M. Okada, S. Kaneko, 2002 .

Genetic abnormalities underlying familial epilepsy syndromes

K. Yamakawa, A. Mitsudome, M. Okada, 2002, Brain and Development.

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

K. Yamakawa, A. Mitsudome, S. Hirose, 2001, Neurology.

Mutation in the STXBP1 Gene Associated with Early Onset West Syndrome: A Case Report and Literature Review

S. Hirose, E. Takeshita, N. Sumitomo, 2022, Pediatric reports.

Genetic Background of Encephalopathy

S. Hirose, A. Ishii, 2018 .

Successful treatment of an infected wound in infants by a combination of negative pressure wound therapy and arginine supplementation.

T. Hara, T. Taguchi, S. Hirose, 2011, Nutrition.

High‐grade mature B‐cell lymphoma with Burkitt‐like morphology: Results of a clinicopathological study of 72 Japanese patients

K. Karube, K. Ohshima, T. Yoshino, 2008, Cancer science.

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

J. Takanashi, M. Mizuguchi, M. Kubota, 2012, Brain and Development.

Benign Convulsions With Mild Gastroenteritis: Is It Associated With Sodium Channel Gene SCN1A Mutation?

Wang-Tso Lee, W. Weng, S. Hirose, 2010, Journal of child neurology.

Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures

Hiroyuki Miyamoto, Shinichi Hirose, Yoshifumi Matsumoto, 2014, Nature Communications.

FULL-LENGTH ORIGINAL RESEARCH Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy

A. Konagaya, H. Kurahashi, T. Kojima, 2008 .

Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.

S. Yamaguchi, S. Hirose, N. Uesugi, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

[An autopsy case of Marfan syndrome with bronchiectasis and multiple bullae].

S. Kira, S. Hirose, H. Saito, 1992, Nihon Kyobu Shikkan Gakkai zasshi.

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

K. Yamakawa, M. Kano, T. Tatsukawa, 2020, Annals of clinical and translational neurology.

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

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2022, Scientific Reports.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Ethan M. Goldberg, Joshua E. Motelow, I. Scheffer, 2021, American journal of human genetics.

A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

J. Yamada, F. Mori, M. Okada, 2013, Epilepsy Research.

A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions

A. Mitsudome, S. Hirose, K. Wada, 2000, Annals of neurology.

Neuropathology of methylmalonic acidemia in a child.

H. Iwasaki, S. Takashima, S. Hirose, 2006, Pediatric neurology.

Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes

H. Kurahashi, N. Higurashi, S. Hirose, 2016, Brain and Development.

Two mild cases of Dravet syndrome with truncating mutation of SCN1A

S. Hirose, A. Kumakura, A. Ishii, 2017, Brain and Development.

A human Dravet syndrome model from patient induced pluripotent stem cells

H. Okano, K. Nabeshima, Y. Okada, 2013, Molecular Brain.

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion

M. Mizuguchi, K. Kikuchi, M. Kubota, 2020, Journal of the Neurological Sciences.

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

S. Hirose, Takahito Inoue, Jun Kido, 2019, Journal of Human Genetics.

A human Dravet syndrome model from patient induced pluripotent stem cells

K. Nabeshima, Y. Okada, N. Higurashi, 2013, Molecular Brain.

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

Y. Maegaki, S. Hirose, K. Ohno, 2018, Brain and Development.

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes

H. Sugiyama, A. Mitsudome, S. Hirose, 2002, Epilepsy Research.

A Case of West Syndrome Associated with Neonatal Hypoglycemic Brain Injury

T. Fujita, S. Yasumoto, S. Hirose, 2010 .

Parvocellular pathway impairment in autism spectrum disorder: Evidence from visual evoked potentials

S. Tobimatsu, Y. Kamio, T. Yamasaki, 2011 .

Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD)

J. Takanashi, T. Shiihara, H. Tada, 2015, Journal of the Neurological Sciences.

Phenotype for activated tissue macrophages in histiocytic necrotizing lymphadenitis

K. Ohshima, M. Kikuchi, S. Hirose, 2009, Pathology international.

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

N. Niikawa, N. Kato, M. Matsuura, 2012, Journal of Human Genetics.

Mutation and Polymorphism Report

A. Mitsudome, S. Hirose, K. Wada, 1999 .

Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome?

Y. Sato, K. Naritomi, S. Hirose, 2001, American journal of medical genetics.

Genotype–phenotype correlations in alternating hemiplegia of childhood

Akihiro Yasuhara, Hirokazu Oguni, Bo Zhang, 2014, Neurology.

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

S. Hirose, N. Sakai, Jun Kido, 2021, Molecular genetics and metabolism reports.

Properties of a novel GABAA receptor γ2 subunit mutation associated with seizures.

J. Yamada, S. Kaneko, S. Ueno, 2013, Journal of pharmacological sciences.

Developmental changes in the expression of GABAA receptor alpha 1 and gamma 2 subunits in human temporal lobe, hippocampus and basal ganglia: An implication for consideration on age-related epilepsy

H. Iwasaki, S. Takashima, A. Mitsudome, 2006, Epilepsy Research.

Genetics of Idiopathic Epilepsies

A. Mitsudome, M. Okada, S. Kaneko, 2005, Epilepsia.

Epilepsy Associated with Abnormalities of GABAA Receptor and K+ Channel

A. Mitsudome, S. Hirose, 2004 .

Age-dependent modulation of hippocampal excitability by KCNQ-channels

Takuya Murakami, Shinichi Hirose, Motohiro Okada, 2003, Epilepsy Research.

Mutation screening of AP3M2 in Japanese epilepsy patients

Y. Sakaki, T. Kojima, H. Oguni, 2007, Brain and Development.

Relationship between Maturation of the Skin and Electrical Skin Resistance

K. Yukitake, A. Mitsudome, S. Hirose, 1987, Pediatric Research.

Quinidine therapy and therapeutic drug monitoring in four patients with KCNT1 mutations.

N. Matsumoto, H. Ikeda, T. Okanishi, 2019, Epileptic disorders : international epilepsy journal with videotape.

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis

E. Bertini, C. Compagnucci, S. Petrini, 2015, Oncotarget.

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

Mami Shibata, S. Hirose, A. Ishii, 2020, Journal of Human Genetics.

Involvement of Ca(2+)-induced Ca2+ releasing system in interleukin-1beta-associated adenosine release.

K. Wakabayashi, F. Mori, M. Okada, 2006, European journal of pharmacology.

Mechanisms of Calcium-Associated Exocytosis of Striatal Dopamine and DOPA Release Studied by In Vivo Microdialysis

M. Okada, S. Kaneko, S. Hirose, 2005 .

Both 3,4-dihydroxyphenylalanine and dopamine releases are regulated by Ca2+-induced Ca2+ releasing system in rat striatum

M. Okada, S. Kaneko, S. Hirose, 2004, Neuroscience Letters.

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

H. Kurahashi, T. Awaya, J. Tohyama, 2019, Seizure.

A case of cystic biliary atresia with an antenatally detected cyst: the possibility of changing from a correctable type with a cystic lesion (I cyst) to an uncorrectable one (IIId)

S. Miyamoto, T. Yoshizato, K. Nabeshima, 2010, Pediatric Surgery International.

A Type I Split Cord Malformation is a Significant Pathomechanism of Spina Bifida Aperta in Neonates

Toshiko Mori, S. Hirose, A. Ogawa, 2007 .

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

Mami Shibata, E. Cooper, S. Hirose, 2019, Epilepsia.

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

Hirokazu Oguni, Shinichi Hirose, Yukitoshi Takahashi, 2011, Epilepsia.

Astrocyte Ca2+ Signaling is Facilitated in an Scn1a+/− Mouse Model of Dravet Syndrome

S. Hirose, M. Deshimaru, S. Katsurabayashi, 2021, bioRxiv.

Rats Harboring S284L Chrna4 Mutation Show Attenuation of Synaptic and Extrasynaptic GABAergic Transmission and Exhibit the Nocturnal Frontal Lobe Epilepsy Phenotype

H. Kijima, K. Wakabayashi, F. Mori, 2008, The Journal of Neuroscience.

An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.

A. Mitsudome, S. Hirose, T. Kanaumi, 2006, Pediatric neurology.

A Case of Tetrasomy 18p with Tracheomalacia

S. Hirose, R. Tsurusawa, Takahito Inoue, 2013 .

Obesity decreases excitability of putative ventral tegmental area GABAergic neurons

S. Hirose, Masayoshi Mori, Hiroki Terai, 2013, Physiological reports.

Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

S. Petrou, T. Furukawa, T. Okanishi, 2015, PloS one.

PCDH19 mutation in Japanese females with epilepsy

H. Shiraishi, Y. Makita, N. Higurashi, 2012, Epilepsy Research.

Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions

H. Iwasaki, S. Takashima, A. Mitsudome, 2008, Brain and Development.

A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions

Y. Makita, A. Mitsudome, M. Okada, 2009, Brain and Development.

The R40H mutation in a late onset type of human ornithine transcarbamylase deficiency in male patients

I. Matsuda, S. Miyazaki, M. Mori, 1997, Human Genetics.

Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal seizures (EIMFS)

N. Matsumoto, S. Miyatake, E. Koshimizu, 2019, Seizure.

Screening method for organic aciduria by spectrofluorometric measurement of total dicarboxylic acids in human urine based on intramolecular excimer-forming fluorescence derivatization

J. Araki, S. Hirose, H. Nohta, 2005 .

MicroRNAs miR-4535 and miR-1915-5p in amniotic fluid as predictive biomarkers for chorioamnionitis

Tetsuya Hayashi, S. Miyamoto, Fusanori Yotsumoto, 2021, Future science OA.

Kyoko Takano, H. Ikeda, Mitsuhiro Kato, 2013, Epilepsy Research.

Nicotinic acetylcholine receptor mutations

O. Steinlein, S. Kaneko, S. Hirose, 2010 .

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

Shinichi Hirose, Yuko Tomonoh, Masanobu Deshimaru, 2016, PloS one.

Detection of SCN1A mutations in patients with severe myoclonic epilepsy in infancy by custom resequence array

S. Kaneko, S. Hirose, K. Wada, 2013 .

Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy

H. Kurahashi, N. Higurashi, S. Hirose, 2012, Epilepsy Research.

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

F. Endo, S. Hirose, Takahito Inoue, 2019, Journal of Human Genetics.

Obesity attenuates D2 autoreceptor‐mediated inhibition of putative ventral tegmental area dopaminergic neurons

S. Hirose, Masayoshi Mori, A. Miyazaki, 2014, Physiological reports.

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

M. Rogawski, S. Hirose, Christoph Lossin, 2012, Neurobiology of Disease.

The Excitatory/Inhibitory Balance of Synaptic Transmission Is Impaired at Higher Extracellular Ca2+ Concentrations in Scn1a+/− Mouse Model of Dravet Syndrome

S. Hirose, M. Deshimaru, S. Katsurabayashi, 2021 .

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

S. Hirose, M. Deshimaru, S. Katsurabayashi, 2021, Scientific Reports.

Case of Desbuquois dysplasia type 1: Potentially lethal skeletal dysplasia

G. Nishimura, Toshiko Mori, S. Hirose, 2014, Pediatrics international : official journal of the Japan Pediatric Society.

Integrative Approach with Electrophysiological and Theoretical Methods Reveals a New Role of S4 Positively Charged Residues in PKD2L1 Channel Voltage-Sensing

Y. Mori, M. Kawano, Y. Kurachi, 2017, Scientific Reports.

Reappraising newborn screening for cobalamin C disorder.

H. Takada, S. Ohga, S. Hirose, 2017, Pediatrics and neonatology.

Review article Genetics of temporal lobe epilepsy

S. Hirose, Su-Kyeong Hwang, 2012 .

A Case of Epilepsy with Grand mal on Awakening Complicated by Orthostatic Dysregulation

S. Hirose, H. Yasumoto, N. Nakamura, 2009 .

Effect of CYP2C19 polymorphisms on stiripentol administration in Japanese cases of Dravet syndrome

K. Yamakawa, H. Osaka, Hiroko Shimbo, 2015, Brain and Development.

[Is the genetic diagnosis of epilepsy useful in clinical practice?].

S. Hirose, 2010, Rinsho shinkeigaku = Clinical neurology.

Effect of valproic acid on the urinary metabolic profile of a patient with succinic semialdehyde dehydrogenase deficiency.

S. Hirose, T. Kuhara, T. Shinka, 2003, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features

Mami Shibata, T. Kawai, Y. Okuno, 2018, Brain and Development.

Developmental changes in brain activity of heterozygous Scn1a knockout rats

J. Hata, Takashi Yamamoto, H. Okano, 2023, Frontiers in Neurology.

Persistent cutaneous neonatal herpes caused by Herpes simplex virus‐2

S. Imafuku, J. Nakayama, S. Hirose, 2012, The Journal of dermatology.

The developmental changes of Nav1.1 and Nav1.2 expression in the human hippocampus and temporal lobe

K. Nabeshima, S. Takashima, S. Hirose, 2011, Brain Research.

Severe myoclonic epilepsy in infancy: clinical analysis and relation to SCN1A mutations in a Japanese cohort.

H. Oguni, M. Ōsawa, A. Mitsudome, 2005, Advances in neurology.

Exacerbation of benign familial neonatal epilepsy induced by massive doses of phenobarbital and midazolam.

T. Maeda, S. Hirose, A. Ishii, 2014, Pediatric neurology.

CUX2 mutations in temporal lobe epilepsy; increased kainate susceptibility and excitatory input to hippocampus in deficient mice

K. Yamakawa, S. Fujimoto, T. Tatsukawa, 2021 .

Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan

S. Hirose, Takahito Inoue, Jun Kido, 2023, Molecular Genetics and Metabolism Reports.

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

Katsuhiro Kobayashi, A. Mitsudome, S. Hirose, 1999, Neurology.

A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression

Takeshi Inoue, S. Hirose, I. Kuki, 2016, Brain and Development.

High‐grade mature B‐cell lymphoma with Burkitt‐like morphology: Results of a clinicopathological study of 72 Japanese patients

K. Karube, K. Ohshima, T. Yoshino, 2008, Cancer Science.

Rapid and sensitive detection of urinary 4-hydroxybutyric acid and its related compounds by gas chromatography-mass spectrometry in a patient with succinic semialdehyde dehydrogenase deficiency.

S. Hirose, T. Kuhara, Akira Ito, 2002, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Hepatocellular apoptosis associated with cytotoxic T/natural killer‐cell infiltration in chronic active EBV infection

K. Karube, K. Ohshima, S. Hirose, 2009, Pathology international.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

Phenotype for activated tissue macrophages in histiocytic necrotizing lymphadenitis

K. Ohshima, M. Kikuchi, S. Hirose, 2009, Pathology international.

A case of long QT syndrome with triple gene abnormalities: digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1.

S. Hirose, K. Hamamoto, M. Yoshinaga, 2013, Heart rhythm.

Determination of exocytosis mechanisms of DOPA in rat striatum using in vivo microdialysis

M. Okada, S. Kaneko, S. Hirose, 2004, Neuroscience Letters.

Clinical spectrum of SCN2A mutations

H. Kurahashi, E. Nakagawa, S. Yasumoto, 2012, Brain and Development.

carcinomas of the and the stomach Simultaneous early ampulla of Vater Report of a case involving chronic inactive hepatitis

S. Kitano, S. Hirose, K. Yamaguchi, 1984 .

Histological characteristics of 21 Papua New Guinean children with high‐grade B‐cell lymphoma, which is frequently associated with EBV infection

K. Ohshima, T. Yoshino, M. Kikuchi, 2008, Pathology international.

Estimation of the relationship between caspase‐3 expression and clinical outcome of Burkitt's and Burkitt‐like lymphoma

K. Karube, K. Ohshima, T. Yoshino, 2008, Cancer science.

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

Mami Shibata, H. Okano, M. Morimoto, 2021, Human molecular genetics.

Y. Maegaki, S. Hirose, Yoshiaki Saito, 2018, Brain and Development.

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Wang-Tso Lee, T. Fujita, S. Yasumoto, 2013, Brain and Development.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features

Mami Shibata, T. Kawai, Y. Okuno, 2018, Brain and Development.

Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.

H. Okano, Takashi Yamamoto, J. Mitsui, 2018, Stem cell research.

Surgical versus medical treatment for children with epileptic encephalopathy in infancy and early childhood: Results of an international multicenter cohort study in Far-East Asia (the FACE study)

Katsuhiro Kobayashi, Seung-Chyul Hong, S. Kameyama, 2016, Brain and Development.