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List of works by Shinichi Hirose

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

scientific article published on 01 January 1999

A boy with a severe phenotype of succinic semialdehyde dehydrogenase deficiency.

scientific article published on 25 May 2011

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)

scientific article published on 01 January 2011

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

scientific article published on 11 December 2012

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

scientific article

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

scientific article

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

scientific article

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

scientific article

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

scientific article

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

scientific article published on 21 July 2006

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

scientific article published on 01 June 2014

A novel SSCP variant (c.828G>A) within the M2 domain of the human neuronal nicotinic acetylcholine receptor alpha 4 subunit gene, CHRNA4

scientific article published on 01 November 2000

A novel intragenetic PvuII marker in the human neuronal nicotinic acetylcholine receptor a4 subunit gene (CHRNA4). Mutation and polymorphism report no. 62. Online

scientific article published on 01 January 1999

A novel mutation of human liver alanine:glyoxylate aminotransferase causes primary hyperoxaluria type 1: immunohistochemical quantification and subcellular distribution.

scientific article published on 10 March 2012

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

scientific article published on 3 September 2013

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

scientific article published on 21 June 2018

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

scientific article published on 10 September 2013

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

scientific article

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

scientific article

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

scientific article published on 3 January 2014

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

scientific article published on 14 July 2011

Biosynthesis, assembly and secretion of fibrinogen in cultured rat hepatocytes.

scientific article published on April 1988

Biphasic actions of topiramate on monoamine exocytosis associated with both soluble N-ethylmaleimide-sensitive factor attachment protein receptors and Ca(2+)-induced Ca(2+)-releasing systems.

scientific article published in January 2005

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

scientific article

Brefeldin A arrests the intracellular transport of a precursor of complement C3 before its conversion site in rat hepatocytes

scientific article published on 01 April 1987

CACNA1A-related early-onset encephalopathy with myoclonic epilepsy: A case report.

scientific article

Case of Desbuquois dysplasia type 1: potentially lethal skeletal dysplasia.

scientific article published in August 2014

Characteristic phasic evolution of convulsive seizure in PCDH19-related epilepsy

scientific article

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.

scientific article

Clinical and genetic features of acute encephalopathy in children taking theophylline.

scientific article

Clinical features of Wilson disease: Analysis of 10 cases.

scientific article published on 7 October 2010

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

scientific article published on 24 December 2016

Clinical spectrum of SCN2A mutations.

scientific article published on 24 October 2011

Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy

scientific article published on January 2015

Cloning, expression and characterization of a lipase gene (lip3) from Pseudomonas aeruginosa LST-03.

scientific article published on 23 January 2004

Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T.

scientific article published on 4 June 2012

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures.

scientific article published in October 2009

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

scientific article published on 28 May 2011

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

scientific article

Development of a mouse model of infantile spasms induced by N-methyl-D-aspartate

scientific article published on 25 September 2015

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

scientific article published on 31 December 2007

Diagnosing nocturnal frontal lobe epilepsy: a case study of two children.

scientific article

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

scientific article

Early-onset absence epilepsy at eight months of age.

scientific article published in December 2011

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

scientific article published on 10 May 2014

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

scientific article

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

scientific article (publication date: 15 July 2003)

Effects of L-carnitine supplementation on renal anemia in poor responders to erythropoietin.

scientific article published in January 2001

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

scientific article published on 13 July 2015

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

scientific article published on 22 July 2014

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

scientific article published on September 15, 2011

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.

scientific article published on February 2003

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

scientific article published on 19 June 2018

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

scientific article published on 01 February 2008

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

scientific article published in August 2008

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

scientific article published on 13 April 2014

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

scientific article published on 27 April 2012

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

scientific article published on 03 April 2018

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

scientific article published on 2 February 2018

Genetic abnormalities underlying familial epilepsy syndromes.

scientific article

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

scientific article published on 13 October 2012

Genetic testing in the epilepsies--report of the ILAE Genetics Commission

scientific article

Genetics of epilepsy: current status and perspectives.

scientific article

Genotype-phenotype correlations in alternating hemiplegia of childhood

scientific article published on 15 January 2014

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

scientific article published on 26 June 2009

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

scientific article published in July 2009

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

scientific article published on 7 May 2015

High-grade mature B-cell lymphoma with Burkitt-like morphology: results of a clinicopathological study of 72 Japanese patients.

scientific article

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

scientific article published in November 2008

IgG subclasses and complement pathway in segmental and global membranous nephropathy.

scientific article published on 12 February 2010

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

scientific article

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

scientific article published on 13 March 2011

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

scientific article

Interaction of Golgin-84 with the COG Complex Mediates the Intra-Golgi Retrograde Transport ⬇️

scientific article published on October 15, 2010

Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

scientific article published on 30 September 2013

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

scientific article published on 28 August 2014

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

scientific article published on 10 August 2012

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

scientific article published on 01 April 2006

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

scientific article published on 18 December 2017

Mammalian glycosylphosphatidylinositol-anchored proteins and intracellular precursors

scientific article published on 01 January 1995

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

scientific article published on 21 April 2008

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

scientific article published on 23 September 2009

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

scientific article published on 6 August 2015

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

scientific article published on April 1, 2011

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

scientific article published on January 2014

Mutation screening of AP3M2 in Japanese epilepsy patients.

scientific article published on 12 February 2007

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

scientific article published on 20 May 2010

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

scientific article published on 08 March 2012

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

scientific article published on 15 July 2005

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

scientific article (publication date: February 2004)

Mutations of the SCN1A gene in acute encephalopathy.

scientific article published on 6 February 2012

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

scientific article (publication date: 28 August 2001)

Neuropathology of methylmalonic acidemia in a child.

scientific article published in February 2006

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

scientific article published on 16 May 2013

Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner

scientific article

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

scientific article published on 15 July 2008

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

scientific article

Obesity decreases excitability of putative ventral tegmental area GABAergic neurons

scientific article published on 23 October 2013

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

scientific article

Oral mexiletine for lidocaine-responsive neonatal epilepsy.

scientific article published on 23 November 2012

Parageusia in an epileptic child treated with lamotrigine

scientific article published on 01 December 2011

Persistent cutaneous neonatal herpes caused by Herpes simplex virus‐2 ⬇️

scientific article published on September 29, 2011

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

scientific article published on June 2004

Phenotype for activated tissue macrophages in histiocytic necrotizing lymphadenitis.

scientific article

Phenotypes of children with 20q13.3 microdeletion affecting KCNQ2 and CHRNA4.

scientific article published in June 2015

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

scientific article published on 07 July 2009

Pleomorphic adenoma of the submandibular gland in children: a case report and a review of the Japanese literature

scientific article published on January 2012

Positive association between benign familial infantile convulsions and LGI4.

scientific article published on 7 October 2009

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

scientific article published on 12 August 2015

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

scientific article published on 20 July 2012

Primary structure of human placental 5'-nucleotidase and identification of the glycolipid anchor in the mature form

scientific article

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

scientific article published on 21 December 2012

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

scientific article published in September 2004

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.

scientific article

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

scientific article

Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

scientific article published in November 2008

Reappraising newborn screening for cobalamin C disorder.

scientific article published on 22 November 2017

Recurrent autonomic and sensory neuropathy in a patient with anti-ganglionic acetylcholine receptor antibodies

scientific article published on 23 August 2018

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

scientific article published on June 14, 2012

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

scientific article

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

scientific article published on 11 April 2011

SCN1A testing for epilepsy: application in clinical practice.

scientific article published on 15 April 2013

SCN8A encephalopathy: Research progress and prospects

scientific article

Seizure phenotypes of a family with missense mutations in SCN2A

scientific article published on 01 August 2004

Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures

scientific article

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

scientific article published on 17 January 2018

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

scientific article published on 16 June 2015

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

scientific article published on 31 May 2011

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).

scientific article published on 10 December 2015

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

scientific article published on 29 December 2008

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

scientific article published on 01 February 1997

The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.

scientific article published on 4 March 2011

The genetics of febrile seizures and related epilepsy syndromes.

scientific article

The kick-in system: a novel rapid knock-in strategy.

scientific article

Trans-Golgi protein p230/golgin-245 is involved in phagophore formation

scientific article published on 28 November 2014

Transmission Experiment of Quantum Keys over 50 km Using High-Performance Quantum-Dot Single-Photon Source at 1.5 µm Wavelength

article

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

scientific article (publication date: 2016)

Two mild cases of Dravet syndrome with truncating mutation of SCN1A.

scientific article published on 17 August 2016

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

scientific article

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

scientific article published in March 2018

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

scientific article

[Central Institute for the Molecular Pathomechanisms of Epilepsies].

scientific article

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