Yoko Aoki

Summary

Affiliation: Tohoku University
Country: Japan

Publications

  1. ncbi request reprint Germline mutations in HRAS proto-oncogene cause Costello syndrome
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    Nat Genet 37:1038-40. 2005
  2. doi request reprint The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 29:992-1006. 2008
  3. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
  4. ncbi request reprint Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system
    Masaya Oda
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aobaku, Japan
    Stroke 38:2157-64. 2007
  5. doi request reprint Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor
    Kanako Kojima-ishii
    Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
    Pediatr Res 64:228-33. 2008
  6. ncbi request reprint Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 130:40-4. 2004
  7. ncbi request reprint A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
    Fumiaki Kamada
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 51:455-60. 2006
  8. doi request reprint Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    J Hum Genet 53:834-41. 2008
  9. ncbi request reprint Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 48:622-8. 2003
  10. ncbi request reprint Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 27:343-52. 2006

Detail Information

Publications50

  1. ncbi request reprint Germline mutations in HRAS proto-oncogene cause Costello syndrome
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    Nat Genet 37:1038-40. 2005
    ..Our observations suggest that germline mutations in HRAS perturb human development and increase susceptibility to tumors...
  2. doi request reprint The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 29:992-1006. 2008
    ..Details on mutations will be updated in the RAS/MAPK Syndromes Homepage (www.medgen.med.tohoku.ac.jp/RasMapk syndromes.html)...
  3. ncbi request reprint Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 143:799-807. 2007
    ....
  4. ncbi request reprint Direct correlation between ischemic injury and extracellular glycine concentration in mice with genetically altered activities of the glycine cleavage multienzyme system
    Masaya Oda
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aobaku, Japan
    Stroke 38:2157-64. 2007
    ..To approach this issue, we examined ischemic injury in mice with genetically altered activities of the glycine cleavage multienzyme system (GCS), which plays a fundamental role in maintaining extracellular glycine concentration...
  5. doi request reprint Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor
    Kanako Kojima-ishii
    Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan
    Pediatr Res 64:228-33. 2008
    ..Our results suggest the usefulness of low-GCS mice as a mouse model for mild GE and a novel therapeutic strategy...
  6. ncbi request reprint Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT)
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 130:40-4. 2004
    ..021). The SNPs studied in AHR and CYP1A1 were not associated with the disease. Our results suggest that ARNT is involved in the development of nonsyndromic oral clefts in the Japanese population...
  7. ncbi request reprint A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation
    Fumiaki Kamada
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 51:455-60. 2006
    ..The phenotypic difference may be caused by the difference in pathogenic mechanisms: haploinsufficiency in deletions and dominant-negative effect in missense mutations...
  8. doi request reprint Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
    Yoko Narumi
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    J Hum Genet 53:834-41. 2008
    ..These three patients exhibited ectodermal abnormalities, such as curly hair, sparse eyebrows, and dry skin, and two of them showed mental retardation. Our results suggest that patients with SOS1 mutations range from NS to CFC syndrome...
  9. ncbi request reprint Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
    Shuji Kayano
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 48:622-8. 2003
    ..Our simple methods to identify deletions and to determine the boundaries of a deletion would facilitate the identification of such patients...
  10. ncbi request reprint Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 27:343-52. 2006
    ..Multiple origins of the exon 1 deletion were suggested by haplotype analysis with four GLDC polymorphisms. This study provides a comprehensive picture of the genetic background of NKH as it is known to date...
  11. doi request reprint HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 56:707-15. 2011
    ..Our findings suggest that the HRAS mutations identified in CS are sufficient to cause oncogene-induced senescence and that cellular senescence might therefore contribute to the pathogenesis of CS...
  12. ncbi request reprint Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population
    Kiyoshi Kanno
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Am J Med Genet A 127:11-6. 2004
    ..0077). Our data suggest that GAD67 is involved in the pathogenesis of NSCLP in the Japanese population...
  13. pmc Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980 8574, Japan
    Am J Hum Genet 93:173-80. 2013
    ..These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. ..
  14. doi request reprint Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey
    Yu Abe
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 158:1083-94. 2012
    ..Identifying patients older than 32 years of age and following up on the patients reported here is important to estimate the precise prevalence and the natural history of these disorders...
  15. doi request reprint Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
    Shoko Komatsuzaki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai, Miyagi, Japan
    J Hum Genet 55:801-9. 2010
    ....
  16. ncbi request reprint [Human development and the RAS/MAPK pathway]
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Seikagaku 79:34-8. 2007
  17. doi request reprint A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
    Fumiaki Kamada
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 56:34-40. 2011
    ..8, 95% confidence interval = 71.7-507.9). Three additional missense mutations were identified in the p.R4859K-negative patients. These results indicate that RNF213 is the first identified susceptibility gene for MMD...
  18. doi request reprint Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
    Tomoko Kobayashi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 31:284-94. 2010
    ..Our results suggest that the dephosphorylation of S259 is the primary pathogenic mechanism in the activation of RAF1 mutants located in the CR2 domain as well as of downstream ERK...
  19. ncbi request reprint Mutations in the holocarboxylase synthetase gene HLCS
    Yoichi Suzuki
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 26:285-90. 2005
    ..Patients who have mutant HLCS with higher residual activity develop symptom after the neonatal period and show a good clinical response to biotin therapy...
  20. ncbi request reprint Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation
    Xue Yang
    Department of Medical Genetics, Tohoku University School of Medicine, Japan
    Mol Genet Metab 82:329-33. 2004
    ..This finding may facilitate the DNA diagnosis of vitamin B(12)-responsive MMA within the Japanese population...
  21. ncbi request reprint Genetic testing of glycogen storage disease type Ib in Japan: five novel G6PT1 mutations and a rapid detection method for a prevalent mutation W118R
    Kanako Kojima
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Mol Genet Metab 81:343-6. 2004
    ..The genetic tests using the simple TaqMan method coupled with sequencing analysis would facilitate the early diagnosis of this disorder...
  22. ncbi request reprint Linkage and association of childhood asthma with the chromosome 12 genes
    Chenchen Shao
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    J Hum Genet 49:115-22. 2004
    ..Our results suggest that NOS1 and STAT6 are asthma-susceptibility genes and that chromosome region 12q24.23-q24.33 contains other susceptibility gene(s)...
  23. pmc Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans
    Ayumi Narisawa
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mol Genet 21:1496-503. 2012
    ..Overall, our findings suggest that loss-of-function mutations in GCS genes predispose to NTDs in mice and humans. These data highlight the importance of adequate function of mitochondrial folate metabolism in neural tube closure...
  24. ncbi request reprint Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Nat Genet 38:294-6. 2006
    ....
  25. doi request reprint Mutations in PIGL in a patient with Mabry syndrome
    Ikuma Fujiwara
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan
    Am J Med Genet A 167:777-85. 2015
    ..These results suggest that frameshift mutations that result in premature termination in PIGL cause a phenotype that is consistent with HPMRS. © 2015 Wiley Periodicals, Inc. ..
  26. doi request reprint GNE myopathy associated with congenital thrombocytopenia: a report of two siblings
    Rumiko Izumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan Department of Neurology, Tohoku University School of Medicine, Sendai, Japan
    Neuromuscul Disord 24:1068-72. 2014
    ..Further investigations are required to clarify the association between GNE myopathy and the pathogenesis of thrombocytopenia. ..
  27. ncbi request reprint Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
    Junko Kanno
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Mol Genet Metab 91:384-9. 2007
    ..These results suggest allelic and non-allelic heterogeneities of PDS, and that the CSF glutamate elevation does not directly correlate with the presence of ALDH7A1 mutations...
  28. ncbi request reprint Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Ann Neurol 59:862-7. 2006
    ..Because the glycine cleavage system breaks down glycine generating carbon dioxide, we suppose that the glycine cleavage system activity could be evaluated in vivo by measuring exhaled (13)CO(2) after administration of [1-(13)C]glycine...
  29. ncbi request reprint Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
    Tetsuya Niihori
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai 980 8574, Japan
    J Hum Genet 50:192-202. 2005
    ..A comparison of the phosphatase activity in each mutant and a review of previously reported cases showed that high phosphatase activity observed in mutations at codons 61, 71, 72, and 76 was significantly associated with leukemogenesis...
  30. ncbi request reprint Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
    Xue Yang
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Mol Genet Metab 81:335-42. 2004
    ..7, and 13.3%, respectively. In conclusion, a limited number of mutations are predominant in both PCCA and PCCB genes among Japanese patients with propionic acidemia...
  31. doi request reprint Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
    Rumiko Izumi
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 58:259-66. 2013
    ..It is possible that focused analysis of TTN may detect more mutations in patients with MFMs, especially in those with early respiratory failure...
  32. ncbi request reprint Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
    Takayuki Kudo
    Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan
    Hum Mol Genet 12:995-1004. 2003
    ....
  33. pmc Development of a multi-step leukemogenesis model of MLL-rearranged leukemia using humanized mice
    Kunihiko Moriya
    Department of Microbiology and Immunology, Tohoku University Graduate School of Medicine, Sendai, Japan
    PLoS ONE 7:e37892. 2012
    ..In addition, since the enforced expression of the mutant K-ras alone was insufficient to induce leukemia, the present model may also be a useful experimental platform for the multi-step leukemogenesis model of human leukemia...
  34. pmc Casitas B-cell lymphoma mutation in childhood T-cell acute lymphoblastic leukemia
    Yuka Saito
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Leuk Res 36:1009-15. 2012
    ..The activation of the RAS pathway was enhanced, and activation of the NOTCH1 pathway was inhibited in NIH 3T3 cells that expressed p.C381R. This study appears to be the first to identify a CBL mutation in T-ALL...
  35. ncbi request reprint Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Mol Genet Metab 83:150-6. 2004
    ....
  36. doi request reprint Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitis
    Eriko Nakano
    Division of Gastroenterology, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, 980 8574, Japan
    Dig Dis Sci 60:1297-307. 2015
    ..We here report a comprehensive analysis of CFTR variants in Japanese patients with chronic pancreatitis using NGS coupling with target capture...
  37. doi request reprint Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation
    Kenichi Sakamoto
    Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine Department of Pediatrics, Kyoto Second Red Cross Hospital, Kyoto Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    J Pediatr Hematol Oncol 36:e136-9. 2014
    ..922A>G; p.N308D). We also discuss the relationship between the hyperdiploid karyotype and genetic alterations in the RAS/MAPK pathway in BCP-ALL. ..
  38. doi request reprint Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature
    Yoko Narumi
    Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Department of Medical Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan
    Am J Med Genet A 164:1272-6. 2014
    ..WES is a useful tool for detecting disease-causing mutations in patients with genetically heterogeneous conditions...
  39. doi request reprint Ras/MAPK syndromes and childhood hemato-oncological diseases
    Yoko Aoki
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryo machi, Sendai, Japan
    Int J Hematol 97:30-6. 2013
    ..In this review, we summarize the genetic mutations, clinical manifestations, associations with malignant tumors, and possible therapeutic approaches for these disorders...
  40. ncbi request reprint Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
    Shigeo Kure
    Department of Medical Genetics, Tohoku University School of Medicine, 1 1 Seiryomachi, Aobaku, Sendai 980 8574, Japan
    Ann Neurol 52:643-6. 2002
    ..Heterozygous mutations were identified in all of the three patients, suggesting that transient neonatal hyperglycinemia develops in some heterozygous carriers for nonketotic hyperglycinemia...
  41. ncbi request reprint Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
    Kiyoshi Kanno
    Department of Plastic Surgery, Tohoku University School of Medicine, Sendai, Japan
    J Hum Genet 47:269-74. 2002
    ..No association between this polymorphism and NSCLP was observed. Our findings suggest that the RARA gene variations do not contribute to the development of NSCLP in the Japanese population...
  42. doi request reprint Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome
    Naomi Hino-Fukuyo
    Department of Pediatrics, Tohoku University School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai, Miyagi, 980 8574, Japan
    Hum Genet 134:649-58. 2015
    ..We provide additional evidence for NR2F1 as a causative gene and for CACNA2D1 and BRWD3 as candidate genes for West syndrome...
  43. pmc Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia
    Junko Kanno
    J Med Genet 44:e69. 2007
    ..Our recent study has suggested that there are a considerable number of GLDC mutations which are not identified by the standard exon-sequencing method...
  44. ncbi request reprint Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene
    Yoshio Makita
    Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
    J Pediatr Hematol Oncol 29:287-90. 2007
    ..Molecular diagnosis and careful observations should be considered in children with CFC syndrome because they have germline mutations in proto-oncogenes and might develop malignancy...
  45. ncbi request reprint HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, DE 19899, USA
    Am J Med Genet A 140:1-7. 2006
    ..Five different HRAS mutations have now been reported in Costello syndrome, however genotype-phenotype correlation remains incomplete...
  46. doi request reprint Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007
    Katherine A Rauen
    Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, California, USA
    Am J Med Genet A 146:1205-17. 2008
  47. pmc Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome
    Caroline Nava
    Department of Genetics, AP HP, Hopital Robert Debre, Paris, France
    J Med Genet 44:763-71. 2007
    ..Although some associated features appear to be characteristic of a specific gene, no simple rule exists to distinguish NS from CFC easily...
  48. ncbi request reprint Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report
    Tatsuro Kondoh
    Eur J Pediatr 162:548-9. 2003
  49. doi request reprint Association of the GABRB3 gene with nonsyndromic oral clefts
    Hiroki Inoue
    Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan
    Cleft Palate Craniofac J 45:261-6. 2008
    ..The GABRB3 gene is therefore a strong candidate gene for nonsyndromic oral clefts. We investigated here whether genetic variations of the GABRB3 gene affect the risk for nonsyndromic oral clefts...
  50. ncbi request reprint A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family
    Zenjiro Matsuyama
    Department of Neurology and Geriatrics, Gifu University, School of Medicine, Tsukasa machi, Gifu 500 8705, Japan
    J Neurol Sci 210:91-3. 2003
    ..This mutation is estimated to cause early stop of the gene transcription, producing a truncated protein. This is the first report of episodic ataxia type 2 of which the mutation was identified in a Japanese family...