Mitsuhiro Kato

发表

Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.

T. Hara, T. Matsuishi, A. Takata, 2018, Cell reports.

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

Tatsuhiko Tsunoda, Daichi Shigemizu, Keith A. Boroevich, 2015, Scientific Reports.

Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses

Long Guo, A. Takata, C. Kim, 2020, Human mutation.

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants

Masahiro Ito, M. Kubota, N. Matsumoto, 2021, Brain and Development.

Interleukin-1β in peripheral monocytes is associated with seizure frequency in pediatric drug-resistant epilepsy

Mitsuhiro Kato, T. Yoshimoto, Izuru Mizoguchi, 2021, Journal of Neuroimmunology.

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

Naomichi Matsumoto, Mitsuhiro Kato, Hitoshi Osaka, 2008, Nature Genetics.

De novo GABRA1 mutations in Ohtahara and West syndromes

Naomichi Matsumoto, Mitsuhiro Kato, Akihiko Ishiyama, 2016, Epilepsia.

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

D. Lev, N. Matsumoto, M. Shiina, 2015, Epilepsia.

SPTAN1 encephalopathy: distinct phenotypes and genotypes

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2015, Journal of Human Genetics.

De novo KCNT1 mutations in early‐onset epileptic encephalopathy

T. Shiihara, N. Matsumoto, J. Azuma, 2015, Epilepsia.

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

Naomichi Matsumoto, Mitsuhiro Kato, N. Matsumoto, 2015, Scientific Reports.

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

E. Leshinsky‐Silver, D. Lev, M. Kubota, 2014, Epilepsia.

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Naomichi Matsumoto, Kenji Kurosawa, Yoshio Makita, 2006, American journal of medical genetics. Part A.

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

E. Zackai, Soma Das, A. Toutain, 2004, Human mutation.

A novel de novo frameshift variant in SETD1B causes epilepsy

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

M. Kubota, T. Ogata, S. Saitoh, 2009, The Journal of pediatrics.

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

M. Yamasaki, Y. Kanemura, N. Matsumoto, 2008, American journal of medical genetics. Part A.

Compound heterozygosity in GPR56 with bilateral frontoparietal polymicrogyria

Mitsuhiro Kato, Masao Kobayashi, N. Ishikawa, 2014, Brain and Development.

Efficacy of ethosuximide on atonic seizures with KCNB1 mutation.

Mitsuhiro Kato, F. Miya, H. Kanemura, 2022, Pediatrics international : official journal of the Japan Pediatric Society.

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

Shinji Saitoh, Hideaki Shiraishi, Mitsuhiro Kato, 2007, American journal of human genetics.

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

H. Shiraishi, N. Matsumoto, Mitsuhiro Kato, 2016, Brain and Development.

Brain Malformations and Genetic Factors

Mitsuhiro Kato, 2013 .

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

N. Miyake, Y. Tsurusaki, Mitsuhiro Kato, 2011, American journal of medical genetics. Part A.

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

Mitsuhiro Kato, 2006, Epilepsy Research.

Inflammatory changes in infantile-onset LMNA-associated myopathy

I. Nonaka, Y. Hayashi, I. Nishino, 2011, Neuromuscular Disorders.

Association of early-onset epileptic encephalopathy with involuntary movements – Case series and literature review

Kenji Inoue, N. Matsumoto, Mitsuhiro Kato, 2020, Epilepsy & behavior reports.

An association analysis of HLA-DQB1 with narcolepsy without cataplexy and idiopathic hypersomnia with/without long sleep time in a Japanese population

K. Hirata, Y. Wada, Y. Fujimura, 2015, Human Genome Variation.

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants

A. Takata, N. Matsumoto, N. Miyake, 2022, Genome Medicine.

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

Novel MCA/ID syndrome with ASH1L mutation

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2017, American journal of medical genetics. Part A.

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

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2010, Movement disorders : official journal of the Movement Disorder Society.

Neural Crest and Central Nervous System Malformation *

Mitsuhiro Kato, S. Takashima, F. Matsuda, 1993 .

Sirolimus for epileptic seizures associated with focal cortical dysplasia type II

A. Kakita, H. Shiraishi, T. Akiyama, 2022, Annals of clinical and translational neurology.

A Single-Arm Open-Label Clinical Trial on the Efficacy and Safety of Sirolimus for Epileptic Seizures Associated with Focal Cortical Dysplasia Type II: A Study Protocol.

H. Shiraishi, T. Akiyama, Mitsuhiro Kato, 2019, The Kurume medical journal.

Two siblings with cortical dysplasia: Clinico‐electroencephalographic features

A. Kakita, Mitsuhiro Kato, Kazuyoshi Watanabe, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

Clinical and genetic characteristics of patients with Doose syndrome

N. Matsumoto, H. Ikeda, Y. Maegaki, 2020, Epilepsia open.

Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

A. Takata, N. Matsumoto, N. Miyake, 2020, Human Genome Variation.

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

Y. Fukushima, N. Matsumoto, K. Koike, 2008, American journal of medical genetics. Part A.

Type C Niemann-Pick disease Detection and quantification of cholesterol-accumulating cells in bone marrow

T. Koeda, Mitsuhiro Kato, J. Tohyama, 1993, Brain and Development.

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

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

Low‐prevalence mosaicism of chromosome 18q distal deletion identified by exome‐based copy number profiling in a child with cerebral hypomyelination

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2020, Congenital anomalies.

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

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2019, Journal of Human Genetics.

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

K. Yokochi, H. Arai, N. Matsumoto, 2012, American journal of human genetics.

Truncating mutation in NFIA causes brain malformation and urinary tract defects

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2015, Human Genome Variation.

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

Keith A. Boroevich, Shujiro Okuda, T. Tsunoda, 2018, Scientific Reports.

Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis

Mitsuhiro Kato, J. Tohyama, Toshiyuki Yamamoto, 2020, Brain and Development.

Fluctuation of Computed Tomographic Findings in White Matter in Alexander's Disease

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2002, Journal of child neurology.

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Annals of neurology.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

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

T. Walsh, M. King, Ming K. Lee, 2014, Journal of Human Genetics.

A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face

N. Matsumoto, N. Miyake, N. Okamoto, 2021, Clinical genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

K. Yokochi, A. Kakita, H. Arai, 2013, Annals of neurology.

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

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

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

T. Shiihara, Mitsuhiro Kato, K. Haginoya, 2016, Brain and Development.

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.

J. Lupski, R. Gibbs, S. Jhangiani, 2022, American journal of human genetics.

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

N. Matsumoto, H. Ikeda, N. Okamoto, 2017, Brain and Development.

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

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2017, Journal of Human Genetics.

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

T. Shiihara, M. Adachi, Mitsuhiro Kato, 2004, Journal of the Neurological Sciences.

Prader-Willi syndrome in a child with XYY

S. Saitoh, Ryouhei Ishii, Mitsuhiro Kato, 1999, Journal of Human Genetics.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Human Genome Variation.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

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

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2011, American journal of medical genetics. Part A.

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

H. Ozawa, Mitsuhiro Kato, T. Ichiyama, 2002, European Journal of Pediatrics.

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

H. Kitaura, A. Kakita, H. Mutoh, 2018, American journal of human genetics.

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

H. Okano, H. Suemizu, T. Shofuda, 2016, Molecular Brain.

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

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2016, Brain and Development.

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

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2014, Child's Nervous System.

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

A. Fukuda, Mitsuhiro Kato, H. Saitsu, 2022, Journal of Human Genetics.

Siblings with optic neuropathy and RTN4IP1 mutation

T. Tsunoda, Yasuhiro Suzuki, M. Yamasaki, 2017, Journal of Human Genetics.

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

A. Takata, N. Matsumoto, M. Shiina, 2018, Human molecular genetics.

A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia

K. Hirata, Y. Wada, Y. Fujimura, 2018, Journal of Human Genetics.

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.

A. Kakita, A. Fattal-Valevski, I. Nishino, 2016, American journal of human genetics.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

Costello syndrome showing moyamoya-like vasculopathy.

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2005, Pediatric neurology.

Four pedigrees with aminoacyl-tRNA synthetase abnormalities

T. Tsunoda, Y. Kanemura, S. Saitoh, 2021, Neurological Sciences.

Efficacy of long term weekly ACTH therapy for intractable epilepsy

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2015, Brain and Development.

Megalencephaly and polymicrogyria with polydactyly syndrome.

Mitsuhiro Kato, J. Tohyama, K. Nishiyama, 2007, Pediatric neurology.

A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2022, Neurology: Genetics.

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter

Y. Maegaki, Mitsuhiro Kato, H. Osaka, 2008, Brain and Development.

A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

H. Mutoh, Mitsuhiro Kato, H. Saitsu, 2021, Journal of Human Genetics.

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

T. Shiihara, N. Matsumoto, K. Maruyama, 2010, Brain and Development.

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

M. Komada, N. Matsumoto, S. Saitoh, 2010, American journal of human genetics.

Acute encephalopathy with refractory status epilepticus: Bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2006, Journal of the Neurological Sciences.

Gene therapy improves motor and mental function of aromatic l-amino acid decarboxylase deficiency

Takeshi Nakajima, H. Mizukami, Mitsuhiro Kato, 2019, Brain : a journal of neurology.

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor δ2 autoantibody

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2007, Brain and Development.

A case of acute cerebellitis accompanied by autoantibodies against glutamate receptor δ2

Mitsuhiro Kato, K. Hayasaka, Tomoyuki Shimokaze, 2007, Brain and Development.

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

Tatsuhiko Tsunoda, Kouichi Ozaki, Shujiro Okuda, 2018, Scientific Reports.

PLPBP mutations cause variable phenotypes of developmental and epileptic encephalopathy

N. Matsumoto, S. Kanai, T. Okanishi, 2018, Epilepsia open.

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

T. Walsh, M. King, Ming K. Lee, 2013, Epilepsia.

Kidney regeneration through nephron neogenesis in medaka

Mitsuhiro Kato, Y. Wakamatsu, S. Maruyama, 2009, Development, growth & differentiation.

T. Maehara, N. Matsumoto, Mitsuhiro Kato, 2022, Brain and Development.

Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma

S. Kameyama, A. Takata, N. Matsumoto, 2019, Neurology.

Lissencephaly and the molecular basis of neuronal migration.

W. Dobyns, Mitsuhiro Kato, 2003, Human molecular genetics.

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

O. Ohara, T. Awaya, T. Heike, 2014, Rheumatology.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

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

N. Matsumoto, Taki Nishimura, N. Miyake, 2013, Nature Genetics.

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

H. Arai, M. Kubota, N. Matsumoto, 2010, Epilepsia.

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

Naomichi Matsumoto, Masaya Kubota, Mitsuhiro Kato, 2013, American journal of human genetics.

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

F. Benfenati, V. Narayanan, L. Maragliano, 2018, Brain : a journal of neurology.

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

H. Kitaura, A. Kakita, S. Kameyama, 2015, Annals of neurology.

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

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

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2020, Journal of Human Genetics.

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

T. Ogata, N. Matsumoto, H. Ikeda, 2018, Human Genetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

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

W. Dobyns, M. Kusaka, I. Kondo, 2002, Nature Genetics.

A novel de novo frameshift variant in SETD1B causes epilepsy

A. Takata, N. Matsumoto, N. Miyake, 2019, Journal of Human Genetics.

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

H. Okano, H. Suemizu, T. Shofuda, 2016, Molecular Brain.

A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia

T. Mizuno, K. Hirata, K. Tokunaga, 2022, NPJ genomic medicine.

Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant

A. Bayat, N. Matsumoto, K. Ogata, 2022, Human Genetics.

Whole genome sequencing of 45 Japanese patients with intellectual disability

Y. Kamatani, M. Kubo, Y. Momozawa, 2021, American journal of medical genetics. Part A.

Prenatal clinical manifestations in individuals with COL4A1/2 variants

Yoshihiko Saito, A. Takata, H. Arai, 2020, Journal of Medical Genetics.

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

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

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

M. Kubota, N. Matsumoto, T. Kinoshita, 2014, neurogenetics.

MLL2 and KDM6A mutations in patients with Kabuki syndrome

N. Niikawa, M. Tekin, K. Ihara, 2013, American journal of medical genetics. Part A.

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

Mitsuhiro Kato, 2011, Journal of Human Genetics.

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

Y. Fukushima, N. Niikawa, K. Yoshiura, 2009, Journal of Human Genetics.

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

D. Lev, N. Matsumoto, M. Shiina, 2018, Annals of neurology.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2014, Neurology.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

S. Weiss, D. Chitayat, H. Arai, 2013, Epilepsia.

Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification

Mitsuhiro Kato, Kazuyuki Nakamura, K. Hayasaka, 2012, Journal of child neurology.

Haploinsufficiency of STXBP1 and Ohtahara syndrome

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2010 .

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

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2016, American journal of medical genetics. Part A.

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

H. Shiraishi, N. Matsumoto, S. Saitoh, 2016, Scientific Reports.

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

S. Antonarakis, P. Milani, S. Auvin, 2016, American journal of human genetics.

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

T. Tsunoda, K. Nagata, Y. Kanemura, 2018, Journal of Medical Genetics.

Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome

Y. Hamamoto, Mitsuhiro Kato, K. Hayasaka, 2010, American journal of medical genetics. Part A.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

K. Yamakawa, A. Takata, N. Matsumoto, 2018, European Journal of Human Genetics.

GRIN2D variants in three cases of developmental and epileptic encephalopathy

A. Takata, N. Matsumoto, M. Shiina, 2018, Clinical genetics.

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

S. Kameyama, N. Matsumoto, N. Miyake, 2016, Annals of clinical and translational neurology.

Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation

N. Matsumoto, S. Miyatake, Mitsuhiro Kato, 2019, Seizure.

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

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Brain and Development.

Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria

A. Takata, N. Matsumoto, N. Miyake, 2018, Annals of neurology.

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

Y. Fukushima, N. Niikawa, N. Matsumoto, 2006, American journal of medical genetics. Part A.

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

K. Yokochi, H. Mutoh, T. Shiihara, 2018, Annals of Clinical and Translational Neurology.

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

K. Hirata, Y. Wada, Y. Fujimura, 2015, Human molecular genetics.

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

T. Shiihara, T. Ogata, Mitsuhiro Kato, 2004, American journal of medical genetics. Part A.

[Epileptic encephalopathy associated with forced normalization after administration of levetiracetam].

Mitsuhiro Kato, Kazuyuki Nakamura, K. Hayasaka, 2013, No to hattatsu = Brain and development.

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, Epilepsia.

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

J. Inazawa, Y. Goto, I. Imoto, 2012, American journal of medical genetics. Part A.

Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis

T. Matsuki, Mitsuhiro Kato, K. Hayasaka, 2001, Annals of neurology.

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

B. Birnir, N. Matsumoto, S. Baig, 2021, American journal of human genetics.

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

Colin A. Johnson, S. Antonarakis, N. Matsumoto, 2016, American journal of human genetics.

De novo PHACTR1 mutations in West syndrome and their pathophysiological effects

K. Nagata, N. Matsumoto, S. Baba, 2018, Brain : a journal of neurology.

Two cases of DYNC1H1 mutations with intractable epilepsy

K. Kawai, Mitsuhiro Kato, Ayumi Matsumoto, 2021, Brain and Development.

Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.

K. Yokochi, K. Misawa, C. Kim, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Mitsuhiro Kato, 2015, Front. Neurosci..

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Y. Nomura, H. Mutoh, A. Takata, 2021, Nature Communications.

Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2021, Journal of Human Genetics.

Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility

I. Scheffer, G. Jackson, P. Crino, 2014, Epilepsia.

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

Mitsuhiro Kato, G. Nishimura, R. Fukuzawa, 2017, American journal of medical genetics. Part A.

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

T. Shimono, Mitsuhiro Kato, H. Shintaku, 2014, Brain and Development.

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities.

A. Takata, N. Matsumoto, M. Shiina, 2019, American journal of human genetics.

Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report

Kosuke Watanabe, A. Takata, N. Matsumoto, 2019, BMC Neurology.

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

Y. Iimura, H. Sugano, M. Miyajima, 2014, Journal of Human Genetics.

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

J. Inazawa, S. Mizutani, I. Imoto, 2007, American journal of medical genetics. Part A.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

KIF1A mutation in a patient with progressive neurodegeneration

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2014, Journal of Human Genetics.

An integrated genetic analysis of epileptogenic brain malformed lesions

Y. Iimura, H. Sugano, A. Kakita, 2023, Acta Neuropathologica Communications.

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

T. Tsunoda, M. Nakanishi, M. Yamasaki, 2017, BMC Medical Genetics.

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

T. Tsunoda, K. Nagata, M. Yamasaki, 2017, Journal of neurochemistry.

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

K. Fujii, H. Ohashi, Mitsuhiro Kato, 2017, Brain and Development.

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3

H. Takada, K. Kosaki, T. Takenouchi, 2021, American journal of medical genetics. Part A.

De novo CLCN3 variants affecting Gly327 cause severe neurodevelopmental syndrome with brain structural abnormalities.

E. Sherr, Mitsuhiro Kato, H. Saitsu, 2022, Journal of human genetics.

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

Mitsuhiro Kato, M. Kurian, Á. García-Cazorla, 2020, Journal of inherited metabolic disease.

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

M. Mizuguchi, Mitsuhiro Kato, S. Takashima, 1997, Acta Neuropathologica.

X-Linked Lissencephaly With Abnormal Genitalia as a Tangential Migration Disorder Causing Intractable Epilepsy: Proposal for a New Term, “Interneuronopathy”

W. Dobyns, Mitsuhiro Kato, 2004, Journal of child neurology.

A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

H. Tsutsumi, Mitsuhiro Kato, S. Fukumura, 2016, Child neurology open.

Serum and CSF biomarkers in acute pediatric neurological disorders

T. Shiihara, M. Kubota, Mitsuhiro Kato, 2014, Brain and Development.

Expanding the KIF4A ‐associated phenotype

F. Alkuraya, N. Chassaing, W. Dobyns, 2021, American journal of medical genetics. Part A.

Molecular diagnosis of 405 individuals with autism spectrum disorder

T. Hara, T. Matsuishi, A. Fattal-Valevski, 2023, European journal of human genetics : EJHG.

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

T. Tsunoda, Y. Kanemura, S. Saitoh, 2021, Neurological Sciences.

Clinical study on the surgical treatment for ulcerative colitis in childhood.

Mitsuhiro Kato, I. Sasaki, Y. Funayama, 1987 .

Clinical variations of epileptic syndrome associated with PACS2 variant

N. Matsumoto, Mitsuhiro Kato, M. Nakashima, 2020, Brain and Development.

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

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2018, Journal of Human Genetics.

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

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2018, Journal of Human Genetics.

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

J. Kohyama, T. Akashi, Mitsuhiro Kato, 2009, Brain & development (Tokyo. 1979).

A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy

N. Matsumoto, S. Miyatake, Mitsuhiro Kato, 2019, Epilepsy Research.

Monogenic causes of pigmentary mosaicism

H. Asada, N. Matsumoto, N. Miyake, 2022, Human Genetics.

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion.

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2005, Neurology.

De novo ATP1A3 variants cause polymicrogyria

T. Tsunoda, T. Hara, A. Takata, 2021, Science Advances.

The ‘double cortex’ syndrome Commentary to Hashimoto's paper (pp. 57-9)

M. Inagaki, T. Koeda, Mitsuhiro Kato, 1993, Brain and Development.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

K. Yamakawa, A. Takata, N. Matsumoto, 2018, European Journal of Human Genetics.

Microcephaly, Cerebellar Atrophy, and Focal Segmental Glomerulosclerosis in Two Brothers: A Possible Mild Form of Galloway-Mowat Syndrome

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2003, Journal of child neurology.

MLL2 and KDM6A Mutations in Patients With

N. Niikawa, M. Tekin, K. Ihara, 2013 .

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.

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

Makoto Sato, T. Miyakawa, A. Wynshaw-Boris, 2013, Scientific Reports.

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

T. Tsunoda, T. Morio, H. Shiraishi, 2017, Scientific Reports.

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

Sonic hedgehog signal peptide mutation in a patient with holoprosencephaly

T. Shiihara, E. Nanba, Mitsuhiro Kato, 2000, Annals of neurology.

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

T. Tsunoda, H. Kurahashi, M. Yamasaki, 2015, Scientific Reports.

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

H. Arai, N. Matsumoto, K. Kagitani-Shimono, 2023, Journal of the Neurological Sciences.

Mislocalization of syntaxin‐1 and impaired neurite growth observed in a human iPSC model for STXBP1‐related epileptic encephalopathy

N. Matsumoto, T. Nakahata, H. Hosoi, 2016, Epilepsia.

Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.

A. Takata, M. Kinoshita, N. Matsumoto, 2021, Brain : a journal of neurology.

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

N. Matsumoto, N. Miyake, Y. Tsurusaki, 2012, American journal of medical genetics. Part A.

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

S. Saitoh, Mitsuhiro Kato, K. Ban, 2015, Pediatrics international : official journal of the Japan Pediatric Society.

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

N. Matsumoto, Mitsuhiro Kato, M. Nakashima, 2020, Neurology: Genetics.

WDR45 mutations in three male patients with West syndrome

N. Matsumoto, Kyoko Takano, N. Miyake, 2016, Journal of Human Genetics.

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

K. Ihara, N. Matsumoto, S. Miyatake, 2017, European Journal of Medical Genetics.

Abnormal pupillary light reflex with chromatic pupillometry in Gaucher disease

Y. Maegaki, Mitsuhiro Kato, Takeshi Inoue, 2014, Annals of clinical and translational neurology.

Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod Dystrophy.

K. Ikeo, K. Tsunoda, Mitsuhiro Kato, 2016, Investigative ophthalmology & visual science.

Limb-clasping, cognitive deficit and increased vulnerability to kainic acid-induced seizures in neuronal glycosylphosphatidylinositol deficiency mouse models

S. Itohara, S. Ogawa, L. Young, 2021, Human molecular genetics.

Limb-clasping, cognitive deficit and increased vulnerability to kainic acid - induced seizures in neuronal GPI anchor deficiency mouse models

S. Itohara, S. Ogawa, L. Young, 2020, bioRxiv.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

N. Matsumoto, Mitsuhiro Kato, H. Saitsu, 2018, Human Genome Variation.

PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

H. Mandel, N. Matsumoto, M. Shiina, 2017, Journal of Human Genetics.

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

H. Ikeda, Mitsuhiro Kato, H. Saitsu, 2021, Journal of Human Genetics.

Diffuse pachygyria with cerebellar hypoplasia: A milder form of microlissencephaly or a new genetic syndrome?

Mitsuhiro Kato, A. Ito, K. Hayasaka, 1999, Annals of neurology.

Magnetoencephalography in Patients with Tuberous Sclerosis and Localization‐related Epilepsy

S. Kameyama, M. Uchiyama, Mitsuhiro Kato, 2006, Epilepsia.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

Phenotype–genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms

N. Matsumoto, K. Ogata, S. Miyatake, 2019, Brain and Development.

Contrast Sensitivity of Patients With Severe Motor and Intellectual Disabilities and Cerebral Visual Impairment

A. Yamadori, Mitsuhiro Kato, A. Ito, 2002, Journal of child neurology.

A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology

Keith A. Boroevich, T. Tsunoda, M. Yamasaki, 2017, American journal of medical genetics. Part A.

Respiratory syncytial virus‐associated encephalopathy complicated by congenital myopathy

T. Shiihara, Mitsuhiro Kato, Kazuyuki Nakamura, 2012, Pediatrics international : official journal of the Japan Pediatric Society.

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

T. Tsunoda, H. Kurahashi, M. Yamasaki, 2016, European Journal of Human Genetics.

Compound heterozygous ADAMTS9 variants in Joubert syndrome-related disorders without renal manifestation

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2021, Brain and Development.

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

T. Tsunoda, M. Yamasaki, Y. Kanemura, 2015, Pediatric Neurology.

Neurochemistry evaluated by magnetic resonance spectroscopy in a patient with FBXO28-related developmental and epileptic encephalopathy

Mitsuhiro Kato, F. Miya, J. Takanashi, 2023, Brain and Development.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Rebecca C. Spillmann, N. Guex, J. Rosenfeld, 2020, bioRxiv.

Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndrome

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Frontiers in genetics.

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

H. Arai, N. Matsumoto, N. Miyake, 2015, Clinical genetics.

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

N. Matsumoto, Takao Takahashi, Mitsuhiro Kato, 2016, Pediatrics.

Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy

S. Fujimoto, A. Barkovich, J. Takanashi, 2006, Neurology.

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

K. Yokochi, T. Shiihara, A. Takata, 2019, Nature Communications.

Progressive Sliding Hiatal Hernia as a Complication of Menkes' Syndrome

T. Shiihara, Mitsuhiro Kato, H. Kodama, 2002, Journal of Child Neurology.

Abnormal glucose metabolism in aromatic l-amino acid decarboxylase deficiency

T. Shiihara, Mitsuhiro Kato, M. Sasaki, 2010, Brain and Development.

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

C. Manegold, W. Hwu, M. Verbeek, 2010, Neurology.

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

Mitsuhiro Kato, Kazuyuki Nakamura, Chizuru Seiwa, 2010, Journal of Human Genetics.

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

Mitsuhiro Kato, H. Gumuş, A. Çağlayan, 2010, Journal of Pediatric Neurosciences.

Characteristics of Postictal Headache in Patients with Partial Epilepsy

M. Matsuura, K. Kanemoto, Mitsuhiro Kato, 2004, Cephalalgia : an international journal of headache.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Y. Okazaki, I. Nishino, N. Matsumoto, 2016, Clinical genetics.

Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome

Mitsuhiro Kato, Kazuyuki Nakamura, H. Saitsu, 2023, Annals of human genetics.

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

N. Matsumoto, Taki Nishimura, N. Miyake, 2013, Nature Genetics.

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

N. Miyake, Y. Tsurusaki, Mitsuhiro Kato, 2012, Clinical genetics.

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.

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

N. Matsumoto, S. Kanai, T. Okanishi, 2018, Clinical genetics.

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

D. Lev, D. Chitayat, N. Matsumoto, 2013, Neurology.

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

A. Takata, N. Matsumoto, N. Miyake, 2017, Clinical genetics.

Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, American journal of medical genetics. Part A.

Clinically mild encephalitis/encephalopathy with a reversible splenial lesion.

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2005, Neurology.

Short communication Acute encephalopathy with refractory status epilepticus: Bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage

T. Shiihara, Mitsuhiro Kato, K. Hayasaka, 2006 .

De Novo Mutations in SLC35A2 Encoding a UDP‐Galactose Transporter Cause Early‐Onset Epileptic Encephalopathy

Y. Wada, N. Matsumoto, Y. Maegaki, 2013, Human mutation.

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

N. Matsumoto, Mitsuhiro Kato, J. Tohyama, 2011, American journal of medical genetics. Part A.

Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II

H. Shiraishi, Mitsuhiro Kato, J. Tohyama, 2023, Brain and Development.

Dopaminergic restoration of prefrontal cortico-putaminal network in gene therapy for aromatic l-amino acid decarboxylase deficiency

K. Kawai, Takeshi Nakajima, Mitsuhiro Kato, 2021, Brain communications.

Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Neurogenetics.

Association between cerebrospinal fluid parameters and developmental and neurological status in glucose transporter 1 deficiency syndrome

H. Arai, N. Matsumoto, K. Ozono, 2023, Journal of the Neurological Sciences.

Splicing variant of WDR37 in a case of Neurooculocardiogenitourinary syndrome

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2023, Brain and Development.

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Mitsuhiro Kato, H. Saitsu, M. Nakashima, 2024, Journal of human genetics.

Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

K. Yokochi, A. Kakita, H. Arai, 2013, Annals of neurology.

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

Y. Fukushima, N. Niikawa, K. Yoshiura, 2009, Journal of Human Genetics.

Detection of copy number variations in epilepsy using exome data

A. Fattal-Valevski, A. Takata, M. Kubota, 2018, Clinical genetics.

A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia

K. Hirata, Y. Fujimura, K. Tokunaga, 2018, Journal of Human Genetics.

Paternal mosaicism of an STXBP1 mutation in OS

M. Kubota, N. Matsumoto, N. Miyake, 2011, Clinical Genetics.

Discordant phenotypes in monozygotic twins with STXBP1 mutation: A case report

Mitsuhiro Kato, F. Miya, T. Matsushige, 2022, Seizure.

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

H. Arai, M. Kubota, N. Matsumoto, 2010, Epilepsia.