List of works - Kazuhiro Yamakawa

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

scientific article published on 24 August 2006

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

scientific article (publication date: February 2005)

A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

scientific article published on 01 November 1991

A high-resolution cytogenetic map of human chromosome 3: localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization

scientific article published on 01 August 1992

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

scientific article published on 12 January 2005

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 nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

scientific article

A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3

scientific article

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

scientific article published on 12 June 2020

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

scientific article

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

scientific article published on 27 February 2018

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

scientific article published in 2013

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

scientific article published on 04 June 2018

Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder

scientific article published on 01 February 2008

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

scientific article (publication date: 2002)

Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction

scientific article published on 9 January 2017

Cell-type specific roles for PTEN in establishing a functional retinal architecture

scientific article

Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31

scientific article

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.

scientific article published on August 1994

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

scientific article

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I

scientific article published on August 1, 1992

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

scientific article

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

scientific article published on 01 September 2018

Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome

scientific article

Consensus on diagnosis and management of JME: From founder's observations to current trends.

scientific article

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

scientific article

DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death

scientific article published in March 2009

DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain

scientific article

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

scientific article published in February 1998

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

scientific article published on 6 December 2017

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

scientific article published in July 2010

Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung

scientific article published on 01 March 1994

Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B

scientific article published on 01 October 1992

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

scientific article published on 11 May 2004

Dscam is associated with axonal and dendritic features of neuronal cells.

scientific article published in November 2001

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

scientific article

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

scientific article

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

scientific article published on 10 May 2014

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

scientific article published on 11 May 2012

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

scientific article

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

scientific article published on 22 July 2014

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.

scientific article published on 4 February 2016

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

scientific article

Familial neuromyelitis optica (Devic's syndrome) with late onset in Japan

scientific article published on 01 July 2000

Genetic abnormalities underlying familial epilepsy syndromes.

scientific article

Genetics of epilepsy: current status and perspectives.

scientific article

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

scientific article published on 19 June 2009

Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report

scientific article published on 01 February 2009

Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice

scientific article published on 25 August 2020

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

scientific article published on 11 January 2018

Improved detection of rotavirus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA

scientific article published on 01 October 1990

In response to terminology and prognosis of Dravet syndrome

scientific article published on 01 June 2014

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

scientific article

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

scientific article

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

scientific article published in December 2002

Long-term course of Dravet syndrome: a study from an epilepsy center in Japan

scientific article published on 06 February 2014

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

scientific article published on 4 August 2006

Molecular basis of severe myoclonic epilepsy in infancy.

scientific article published on 08 February 2009

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

scientific article

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

scientific article published in August 2008

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

scientific article

Mutations in EFHC1 cause juvenile myoclonic epilepsy

scientific article

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

scientific article published on 15 July 2005

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

scientific article published in May 2003

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

scientific article published on 06 August 2013

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

scientific journal article

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

scientific article (publication date: 28 August 2001)

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

scientific article published on 4 August 2017

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

scientific article

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

scientific article

Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

scientific article (publication date: 8 April 2002)

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.

scientific article

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

scientific article published on 15 May 2007

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

scientific article published on 11 October 2017

Precise ordering of 26 cosmid markers on chromosome region 3p23-->p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs

scientific article published on 01 January 1995

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

scientific article

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis.

scientific article published in December 2001

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

scientific article published on 05 December 2020

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

scientific article published on July 2013

Recent developments in the quest for myoclonic epilepsy genes.

scientific article published on January 2003

SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

scientific article published on 01 October 2006

Seizure phenotypes of a family with missense mutations in SCN2A

scientific article published on 01 August 2004

Semiautomated DNA probe mapping using digital imaging microscopy: II. System performance.

scientific article

Sequential expression of Efhc1/myoclonin1 in choroid plexus and ependymal cell cilia

scientific article published on 28 December 2007

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum.

scientific article

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

scientific article

Stimulus-induced behavior in F1 hybrids of seizure-sensitive and seizure-resistant gerbils.

scientific article

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

scientific article

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

scientific article published on 23 July 2002

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

scientific article

The impact of early environmental interventions on structural plasticity of the axon initial segment in neocortex.

scientific article published on 30 July 2016

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

scientific article published on 4 January 2012

Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.

scientific article published in October 2005

Ts1Cje Down syndrome model mice exhibit environmental stimuli-triggered locomotor hyperactivity and sociability concurrent with increased flux through central dopamine and serotonin metabolism.

scientific article published on 20 March 2017

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

scientific article published in March 2018

Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome.

scientific article

List of works by Kazuhiro Yamakawa

A Kv4.2 truncation mutation in a patient with temporal lobe epilepsy.

A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures

A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3

A high-resolution cytogenetic map of human chromosome 3: localization of 291 new cosmid markers by direct R-banding fluorescence in situ hybridization

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

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

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

Alterations of in vivo CA1 network activity in Dp(16)1Yey Down syndrome model mice

Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

Association study between the Down syndrome cell adhesion molecule (DSCAM) gene and bipolar disorder

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction

Cell-type specific roles for PTEN in establishing a functional retinal architecture

Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31

Characterization of an 800 kb region at 3p22-p21.3 that was homozygously deleted in a lung cancer cell line.

Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map.

Cloning and characterization of the inversion breakpoint at chromosome 2q35 in a patient with Waardenburg syndrome type I

Cloning and functional characterization of DSCAML1, a novel DSCAM-like cell adhesion molecule that mediates homophilic intercellular adhesion

Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights

Comparative proteomic profiling reveals aberrant cell proliferation in the brain of embryonic Ts1Cje, a mouse model of Down syndrome

Consensus on diagnosis and management of JME: From founder's observations to current trends.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

DSCAM deficiency causes loss of pre-inspiratory neuron synchroneity and perinatal death

DSCAM, a highly conserved gene in mammals, expressed in differentiating mouse brain

DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

Deletions of SCN1A 5' genomic region with promoter activity in Dravet syndrome.

Detailed deletion mapping of the short arm of chromosome 3 in small cell and non-small cell carcinoma of the lung

Detailed mapping around the breakpoint of (3;8) translocation in familial renal cell carcinoma and FRA3B

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

Dscam is associated with axonal and dendritic features of neuronal cells.

Dysfunctions in endosomal-lysosomal and autophagy pathways underlie neuropathology in a mouse model for Lafora disease.

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

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

Efficacy of stiripentol in hyperthermia-induced seizures in a mouse model of Dravet syndrome

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

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

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome.

Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24.

Familial neuromyelitis optica (Devic's syndrome) with late onset in Japan

Genetic abnormalities underlying familial epilepsy syndromes.

Genetics of epilepsy: current status and perspectives.

Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.

Ictal vomiting as an initial symptom of severe myoclonic epilepsy in infancy: a case report

Impairment of spatial memory accuracy improved by Cbr1 copy number resumption and GABAB receptor-dependent enhancement of synaptic inhibition in Down syndrome model mice

Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells

Improved detection of rotavirus RNA in dot-blot hybridization assay by chromatographic extraction and acid denaturation of double-stranded RNA

In response to terminology and prognosis of Dravet syndrome

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24.

Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families.

Long-term course of Dravet syndrome: a study from an epilepsy center in Japan

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome.

Molecular basis of severe myoclonic epilepsy in infancy.

Molecular identification of human G-substrate, a possible downstream component of the cGMP-dependent protein kinase cascade in cerebellar Purkinje cells

Monozygotic twins with severe myoclonic epilepsy in infancy discordant for clinical features.

Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy

Mutations in EFHC1 cause juvenile myoclonic epilepsy

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

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

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

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

Non-invasive gene targeting to the fetal brain after intravenous administration and transplacental transfer of plasmid DNA using PEGylated immunoliposomes.

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

Novel polymorphisms in the promoter region of the neurotrophin-3 gene and their associations with schizophrenia

Ontogeny of Lafora bodies and neurocytoskeleton changes in Laforin-deficient mice.

Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

Precise ordering of 26 cosmid markers on chromosome region 3p23-->p21.3 by two-color FISH on human prophase chromosomes and stretched DNAs

Proteomic analysis of multiple primary cilia reveals a novel mode of ciliary development in mammals

R133C and R168X mutations in Japanese Rett syndrome patients: a caution for misdiagnosis.

Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?