Mitsuhiro Kato

Overview

Best Publications

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

  Kunio Kitamura;Masako Yanazawa;Noriyuki Sugiyama;Hirohito Miura

  770
  Citations

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

  Hirotomo Saitsu;Mitsuhiro Kato;Takeshi Mizuguchi;Keisuke Hamada

  619
  Citations

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

  Yoshinori Tsurusaki;Nobuhiko Okamoto;Hirofumi Ohashi;Tomoki Kosho

  542
  Citations

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

  Hirotomo Saitsu;Taki Nishimura;Taki Nishimura;Kazuhiro Muramatsu;Hirofumi Kodera

  507
  Citations

• Lissencephaly and the molecular basis of neuronal migration.

  Mitsuhiro Kato;William B. Dobyns

  358
  Citations

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

  Mitsuhiro Kato;Soma Das;Kristin Petras;Kunio Kitamura

  346
  Citations

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

  Mitsuhiro Kato;Takanori Yamagata;Masaya Kubota;Hiroshi Arai

  262
  Citations

• De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

  Kazuyuki Nakamura;Kazuyuki Nakamura;Hirofumi Kodera;Tenpei Akita;Masaaki Shiina

  252
  Citations

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

  L. Brun;L. H. Ngu;W. T. Keng;G. S. Ch'ng

  243
  Citations

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

  Mitsuko Nakashima;Hirotomo Saitsu;Nobuyuki Takei;Jun Tohyama

  220
  Citations

• Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

  Kazuyuki Nakamura;Mitsuhiro Kato;Hitoshi Osaka;Sumimasa Yamashita

  218
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

  Mitsuhiro Kato;Shinji Saitoh;Atsushi Kamei;Hideaki Shiraishi

  200
  Citations

• Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

  Hirotomo Saitsu;Jun Tohyama;Tatsuro Kumada;Kiyoshi Egawa

  176
  Citations

• Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly

  Yuriko Yoneda;Kazuhiro Haginoya;Mitsuhiro Kato;Hitoshi Osaka

  173
  Citations

• Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

  R. Guerrini;F. Moro;M. Kato;A. J. Barkovich

  172
  Citations

• X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".

  Mitsuhiro Kato;William B. Dobyns

  170
  Citations

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

  Atsushi Takata;Noriko Miyake;Yoshinori Tsurusaki;Ryoko Fukai

  165
  Citations

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

  Hirotomo Saitsu;Mitsuhiro Kato;Ippei Okada;Kenji E. Orii

  164
  Citations

• Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

  Chihiro Ohba;Mitsuhiro Kato;Satoru Takahashi;Tally Lerman-Sagie

  151
  Citations