Advanced search

Authors whose works are in public domain in at least one jurisdiction

List of works by Mitsuhiro Kato

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

scientific article published on 23 May 2009

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

scientific article published on 23 March 2013

A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor delta2.

scientific article published on 27 September 2006

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

scientific article published on 12 October 2016

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene

article

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

scientific article

A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

scientific article

A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly

scientific article published on 16 August 2019

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation

scientific article published on 7 August 2014

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

scientific article

A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

scientific article

A new paradigm for West syndrome based on molecular and cell biology

scientific article

A novel de novo frameshift variant in SETD1B causes epilepsy

scientific article published on 20 May 2019

A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency.

scientific article published on 12 February 2017

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.

scientific article published on 4 August 2017

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

scientific article

A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia

scientific article (publication date: April 1999)

A severe pulmonary complication in a patient with COL4A1-related disorder: A case report

scientific article published on 22 December 2016

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

scientific article published on 10 June 2013

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.

scientific article

Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG).

scientific article published on 7 October 2008

Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report

scientific article published on 18 August 2016

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

article

Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord.

scientific article published on 8 April 2016

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

scientific article published in October 2004

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

scientific article published on 16 November 2016

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

scientific journal article

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

scientific article published on 26 January 2018

Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5-11.1 Mb terminal deletion of 1p36.

scientific article published in November 2008

Brainstem lesion in Aicardi-Goutières syndrome ⬇️

scientific article published on August 1, 1998

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

scientific article published on 18 June 2012

Cerebrospinal fluid abnormalities in developmental and epileptic encephalopathy with a de novo CDK19 variant

scientific article published on 08 October 2020

Cerebrospinal fluid levels of cytokines and soluble tumour necrosis factor receptor in acute disseminated encephalomyelitis

scientific article published on 01 March 2002

Characterization of SPATA5-related encephalopathy in early childhood

scientific article published on June 2016

Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene

article

Clinical and genetic characteristics of patients with Doose syndrome

scientific article published on 23 July 2020

Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.

scientific article published in April 2007

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature

article

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

scientific article published on 9 August 2013

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

scientific article published on 26 April 2013

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria ⬇️

scientific article published on August 24, 2013

Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

scientific article published on 26 August 2010

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

scientific article published on 7 June 2019

Congenital dysplastic microcephaly and hypoplasia of the brainstem and cerebellum with diffuse intracranial calcification

scientific article

Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

scientific article published on 01 July 2004

DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst

scientific article published on 14 June 2016

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient

scientific article published on 10 December 2010

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

scientific article

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

scientific article published on 11 October 2011

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy

scientific article published on 29 April 2014

De novo GABRA1 mutations in Ohtahara and West syndromes

scientific article

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

scientific article

De novo KCNT1 mutations in early-onset epileptic encephalopathy

scientific article

De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly

scientific article published on 29 December 2011

De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy

scientific article published on 15 October 2013

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

scientific article

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

scientific article

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

scientific article

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders.

scientific article

De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms

scientific article published on 27 April 2020

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

scientific article published on 10 January 2018

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

scientific article

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Detection of copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

Developmental changes of epidermal growth factor-like immunoreactivity in the human fetal brain.

scientific article published in November 1995

Developmental changes of heat shock protein 73 in human brain.

scientific article

Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy.

scientific article published in May 2006

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

scientific article

Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

scientific article published on 21 November 2011

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

scientific article published on 2 June 2014

Efficacy of long term weekly ACTH therapy for intractable epilepsy.

scientific article published on 20 August 2014

GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders

scientific article

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.

scientific article

Going BAC or oligo microarray to the well: A commentary on Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies ⬇️

scientific article published on January 13, 2011

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

scientific article published on 16 October 2015

Hypertrophy of the cerebral white matter in hemimegalencephaly

scientific article published on 01 May 1996

IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.

scientific article published on 4 April 2018

Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.

scientific article published on 6 June 2017

Immunohistochemical and morphometrical development of the dorsal root ganglion as a neural crest derivative: comparison with the fetal CNS.

scientific article published in August 1994

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

scientific article published on 20 July 2016

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

scientific article

Inflammatory changes in infantile-onset LMNA-associated myopathy

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility.

scientific article published on 6 February 2014

KIF1A mutation in a patient with progressive neurodegeneration

scientific article published on 25 September 2014

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

scientific article published on 01 July 2008

Lissencephaly and the molecular basis of neuronal migration

scientific article (publication date: 2 April 2003)

Loss of doublecortin in heterotopic gray matter of a fetus with subcortical laminar heterotopia.

scientific article published in July 2002

Loss of neurofibromin in the leptomeningeal astroglial heterotopia of NF-1

scientific article published on 01 March 1998

Loss of tuberin from cerebral tissues with tuberous sclerosis and astrocytoma.

scientific article published in December 1996

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

scientific article published on 8 February 2018

MLL2 and KDM6A mutations in patients with Kabuki syndrome

scientific article published on 02 August 2013

Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy.

scientific article published in June 2006

Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

scientific article published on 01 October 2009

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation

scientific article published on 2 July 2016

Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.

scientific article published on February 2003

Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model forSTXBP1-related epileptic encephalopathy

scientific article published on 25 February 2016

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

scientific article published on 3 April 2009

Multiple sulphatase deficiency and haemophagocytic syndrome

scientific article published on 01 July 1998

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

scientific article (publication date: November 2002)

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

scientific article

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

scientific article published on February 2004

New susceptibility variants to narcolepsy identified in HLA class II region.

scientific article published on 25 September 2014

No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients

scientific article published on 01 February 2006

Novel DCX mutation-caused lissencephaly in a boy and very mild heterotopia in his mother

scientific article

Novel MCA/ID syndrome with ASH1L mutation

scientific article published on 10 April 2017

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

scientific article published on 30 May 2017

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

scientific article published on 08 June 2014

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

scientific article

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

article

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

scientific article published on 12 January 2017

PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy ⬇️

scientific article published on May 24, 2013

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

scientific article published on 4 April 2014

Paternal mosaicism of an STXBP1 mutation in OS

scientific article published on 10 November 2010

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

scientific article published on 15 March 2016

Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly

scientific article

Post-natal treatment by a blood-brain-barrier permeable calpain inhibitor, SNJ1945 rescued defective function in lissencephaly

scientific article

Prader-Willi syndrome in a child with XYY

scientific article published on 01 January 1999

Primary microcephaly with anterior predominant pachygyria caused by novel compound heterozygous mutations in ASPM.

scientific article published on 7 February 2015

Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space.

scientific article published on August 2011

Progressive sliding hiatal hernia as a complication of Menkes' syndrome.

scientific article published in May 2002

Progressive subglottic stenosis in a child with Pallister-Killian syndrome.

scientific article published on 26 July 2017

Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

scientific article published on 04 July 2018

Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy

scientific article published on 01 October 2012

Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability

scientific article published on 27 October 2016

SPTAN1 encephalopathy: distinct phenotypes and genotypes

scientific article

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

scientific article published on 30 September 2010

Serum and CSF biomarkers in acute pediatric neurological disorders.

scientific article published on 11 July 2013

Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis

scientific article published on 01 December 2001

Siblings with optic neuropathy and RTN4IP1 mutation

scientific article published on 22 June 2017

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

scientific article

Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma

scientific article published on 24 March 2016

Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.

scientific article published on 22 November 2014

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome

scientific article published on 01 September 2010

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

scientific article

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

scientific article published on 10 May 2013

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders

scientific article published on 13 November 2014

The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints

scientific article published on 23 April 2012

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome

scientific article published on 6 November 2014

Tuberin immunohistochemistry in brain, kidneys and heart with or without tuberous sclerosis ⬇️

scientific article published on December 1, 1997

Two female siblings with West syndrome: Familial idiopathic West syndrome with genetic susceptibility and variable phenotypic expression.

scientific article

Two new cases of pure 1q terminal deletion presenting with brain malformations

scientific article published on 01 May 2008

Two siblings with cortical dysplasia: Clinico-electroencephalographic features

scientific article published on 27 May 2015

Unusual ribbon-like periventricular heterotopia with congenital cataracts in a Japanese girl.

scientific article published on 7 February 2012

WDR45 mutations in three male patients with West syndrome

scientific article

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

scientific article published on 01 August 2012

l-Thyroxine-responsive drop attacks in childhood benign hereditary chorea: A case report

scientific article

Paulina is supported by:

About Paulina

Help