Publications by authors named "Kyoko Takano"

42Publications

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.

Pediatr Neurol 2020 Sep 2;113:33-41. Epub 2020 Sep 2.

Department of Child Neurology, Okayama University Hospital, Okayama, Japan; Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.08.020DOI Listing
September 2020

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

Am J Hum Genet 2020 03 27;106(3):356-370. Epub 2020 Feb 27.

Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A3K7, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.01.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058829PMC
March 2020

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Am J Med Genet A 2019 06 2;179(6):948-957. Epub 2019 Apr 2.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1002/ajmg.a.61142DOI Listing
June 2019

Aggregate formation analysis of GFAP found in one case of Alexander disease.

Brain Dev 2019 Feb 10;41(2):195-200. Epub 2018 Sep 10.

Deptartment of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2018.08.009DOI Listing
February 2019

Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.

Pediatr Int 2018 Apr 4;60(4):378-380. Epub 2018 Mar 4.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1111/ped.13508DOI Listing
April 2018

A novel frameshift mutation of in a Japanese family with autosomal recessive cerebellar ataxia type 8.

Hum Genome Var 2017 26;4:17052. Epub 2017 Oct 26.

Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1038/hgv.2017.52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760PMC
October 2017

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Eur J Med Genet 2017 Oct 12;60(10):521-526. Epub 2017 Jul 12.

Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.008DOI Listing
October 2017

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Brain Dev 2017 Oct 24;39(9):804-807. Epub 2017 May 24.

Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

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http://dx.doi.org/10.1016/j.braindev.2017.05.003DOI Listing
October 2017

WDR45 mutations in three male patients with West syndrome.

J Hum Genet 2016 Jul 31;61(7):653-61. Epub 2016 Mar 31.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2016.27DOI Listing
July 2016

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy.

Seizure 2015 Apr 16;27:1-5. Epub 2015 Feb 16.

Central Research Institute for the Pathomechanisms of Epilepsy, Fukuoka University, 7-45-1, Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan; Department of Pediatrics, Fukuoka University School of Medicine, 7-45-1, Nanakuma, Jonan-ku, Fukuoka 814-0180, Japan. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2015.02.006DOI Listing
April 2015

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.

Pediatr Int 2015 Apr;57(2):324-6

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Medical Ethics and Medical Genetics, Kyoto University Graduate School of Medicine, Kyoto, Japan.

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http://dx.doi.org/10.1111/ped.12613DOI Listing
April 2015

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Brain Dev 2015 Jun 27;37(6):638-42. Epub 2014 Oct 27.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan; Department of Pediatrics, Jichi Medical School, Shimotsuke, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.10.002DOI Listing
June 2015

West syndrome in a patient with Schinzel-Giedion syndrome.

J Child Neurol 2015 Jun 14;30(7):932-6. Epub 2014 Jul 14.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan

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http://dx.doi.org/10.1177/0883073814541468DOI Listing
June 2015

Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.

J Hum Genet 2014 Aug 26;59(8):471-4. Epub 2014 Jun 26.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1038/jhg.2014.51DOI Listing
August 2014

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

Mol Genet Metab Rep 2014 1;1:133-138. Epub 2014 Apr 1.

Division of Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa 232-8555, Japan; Department of Pediatrics, Jichi Medical School, 3311-1 Yakushiji, Shimotsuke-shi, Tochigi 329-0498, Japan.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121298PMC
April 2014

A three-year-old boy with glucose transporter type 1 deficiency syndrome presenting with episodic ataxia.

Pediatr Neurol 2014 Jan 5;50(1):99-100. Epub 2013 Nov 5.

Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.09.002DOI Listing
January 2014

Idiopathic cranial polyneuropathy with unilateral IX and X and contralateral XI nerve palsy in a 4-year-old boy.

Pediatr Neurol 2012 Sep;47(3):198-200

Division of Pediatric Neurology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Yokohama, Kanagawa, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S088789941200181
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http://dx.doi.org/10.1016/j.pediatrneurol.2012.04.021DOI Listing
September 2012

Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

Brain Dev 2012 Nov 10;34(10):861-5. Epub 2012 Mar 10.

Division of Neurology, Kanagawa Children's Medical Center, Minami-ku, Yokohama 232-8555, Japan.

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https://linkinghub.elsevier.com/retrieve/pii/S03877604120003
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http://dx.doi.org/10.1016/j.braindev.2012.02.007DOI Listing
November 2012

Comparison of three methods for localizing interictal epileptiform discharges with magnetoencephalography.

J Clin Neurophysiol 2011 Oct;28(5):431-40

Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Charlestown, Massachusetts, USA.

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http://dx.doi.org/10.1097/WNP.0b013e318231c86fDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190234PMC
October 2011

A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics.

Proteins 2011 Aug 31;79(8):2444-54. Epub 2011 May 31.

Department of Physics, Computational Biophysics and Bioinformatics, Clemson University, Clemson, South Carolina 29634, USA.

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http://dx.doi.org/10.1002/prot.23065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132293PMC
August 2011

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

Am J Med Genet B Neuropsychiatr Genet 2008 Jun;147B(4):479-84

Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.b.30638DOI Listing
June 2008

Investigations of the quality of hospital electric power supply and the tolerance of medical electric devices to voltage dips.

J Med Syst 2007 Jun;31(3):219-23

Division of Medical Informatics, Shimane University Hospital, Enya-cho 89-1, Izumo 693-8501, Japan.

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http://dx.doi.org/10.1007/s10916-007-9058-zDOI Listing
June 2007

DNA demethylation reactivation of imprinted genes in cell lines from patients with Prader-Willi syndrome and a mouse model.

Am J Med Genet A 2007 Jun;143A(12):1386-90

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.31765DOI Listing
June 2007

Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome.

Brain Dev 2007 Sep 26;29(8):529-33. Epub 2007 Mar 26.

Department of Pediatrics, Hokkaido University, Graduate School of Medicine, North 15, West 7, Kita-ku, Sapporo, Hokkaido 060-8638, Japan.

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http://dx.doi.org/10.1016/j.braindev.2007.01.011DOI Listing
September 2007

Application of magnetoencephalography in epilepsy patients with widespread spike or slow-wave activity.

Epilepsia 2005 Aug;46(8):1264-72

MGH/MIT/HMS Athinoula A. Martinos Center for Biomedical Imaging, Massachusetts General Hospital/Harvard Medical School, Charlestown, Massachusetts, USA.

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http://dx.doi.org/10.1111/j.1528-1167.2005.65504.xDOI Listing
August 2005

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome.

Brain Dev 2005 Aug;27(5):389-91

Department of Pediatrics, Graduate School of Medicine, Hokkaido University, N-15, W-7, Sapporo 060-8638, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S038776040500040
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http://dx.doi.org/10.1016/j.braindev.2003.12.013DOI Listing
August 2005

High uptake on 11C-methionine positron emission tomographic scan of basal ganglia germinoma with cerebral hemiatrophy.

AJNR Am J Neuroradiol 2003 Oct;24(9):1909-11

Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

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October 2003

Electromagnetic noise superimposed on the electric power supply to electronic medical equipment.

J Med Syst 2003 Aug;27(4):381-92

Department of Medical Informatics, Shimane Medical University Hospital, Izumo 693-8501, Japan.

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http://dx.doi.org/10.1023/a:1023761405450DOI Listing
August 2003

Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I.

Pediatr Neurol 2003 Feb;28(2):142-4

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://dx.doi.org/10.1016/s0887-8994(02)00619-7DOI Listing
February 2003

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Ann Neurol 2002 Jul;52(1):122-5

Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.

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http://doi.wiley.com/10.1002/ana.10235
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http://dx.doi.org/10.1002/ana.10235DOI Listing
July 2002

A practical procedure to prevent electromagnetic interference with electronic medical equipment.

J Med Syst 2002 Feb;26(1):61-5

Department of Medical Information Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

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http://dx.doi.org/10.1023/a:1013094904976DOI Listing
February 2002