Kazuhiro Yamakawa

Overview

Best Publications

• Nav1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an Scn1a Gene Mutation

  Ikuo Ogiwara;Hiroyuki Miyamoto;Noriyuki Morita;Nafiseh Atapour

  981
  Citations

• A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

  Takashi Sugawara;Yuji Tsurubuchi;Kishan Lal Agarwala;Masatoshi Ito

  514
  Citations

• Mutations in EFHC1 cause juvenile myoclonic epilepsy

  Toshimitsu Suzuki;Toshimitsu Suzuki;Antonio V Delgado-Escueta;Kripamoy Aguan;Maria E Alonso

  429
  Citations

• Prognostic Significance of p53 Mutations and 3p Deletions in Primary Resected Non-Small Cell Lung Cancer

  Horio Y;Takahashi T;Kuroishi T;Hibi K

  425
  Citations

• Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

  Tateki Fujiwara;Takashi Sugawara;Emi Mazaki-Miyazaki;Yukitoshi Takahashi

  405
  Citations

• Three distinct regions involved in 3p deletion in human lung cancer.

  Hibi K;Takahashi T;Yamakawa K;Ueda R

  345
  Citations

• DSCAM: A Novel Member of the Immunoglobulin Superfamily Maps in a Down Syndrome Region and is Involved in the Development of the Nervous System

  Kazuhiro Yamakawa;Yong Kang Huo;Melissa A. Haendel;René Hubert

  344
  Citations

• Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

  Subramaniam Ganesh;Antonio V. Delgado-Escueta;Antonio V. Delgado-Escueta;Toshiro Sakamoto;Maria Rosa Avila

  330
  Citations

• Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

  T. Sugawara;E. Mazaki-Miyazaki;K. Fukushima;J. Shimomura

  287
  Citations

• A Nonsense Mutation of the Sodium Channel Gene SCN2A in a Patient with Intractable Epilepsy and Mental Decline

  Kazusaku Kamiya;Makoto Kaneda;Takashi Sugawara;Emi Mazaki

  246
  Citations

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

  Itaru Kushima;Branko Aleksic;Masahiro Nakatochi;Teppei Shimamura

  237
  Citations

• De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies

  I. Ogiwara;K. Ito;Y. Sawaishi;H. Osaka

  230
  Citations

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

  T. Sugawara;E. Mazaki-Miyazaki;M. Ito;H. Nagafuji

  208
  Citations

• Common regions of deletion on chromosomes 5q, 6q, and 10q in renal cell carcinoma.

  Ryoji Morita;Susumu Saito;Jiro Ishikawa;Osamu Ogawa

  201
  Citations

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

  Ikuo Ogiwara;Takuji Iwasato;Takuji Iwasato;Hiroyuki Miyamoto;Hiroyuki Miyamoto;Ryohei Iwata;Ryohei Iwata

  194
  Citations

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

  Kenji Amano;Haruhiko Sago;Chiharu Uchikawa;Taishi Suzuki

  185
  Citations

• A Detailed Deletion Mapping of the Short Arm of Chromosome 3 in Sporadic Renal Cell Carcinoma

  Kazuhiro Yamakawa;Ryoji Morita;Ei-ichi Takahashi;Tada-aki Hori

  184
  Citations

• Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

  Subramaniam Ganesh;Kishan Lal Agarwala;Kazunori Ueda;Takumi Akagi

  181
  Citations

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

  Baljinder Singh;Ikuo Ogiwara;Makoto Kaneda;Natsuko Tokonami

  162
  Citations

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

  Ebrahim Abdul Shukkur;Atsushi Shimohata;Takumi Akagi;Wenxin Yu

  153
  Citations