Kyoko Takano
Matsumoto, Japan
Last Updated: 09/26/2026
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Found 39 publications
Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.
Journal: Epilepsia open
Published: December 13, 2025
Characteristics of an advanced epilepsy treatment gap in a region in Japan.
Journal: Epilepsy & behavior reports
Published: August 07, 2023
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes.
Journal: Molecular syndromology
Published: October 22, 2022
A nationwide survey of Schaaf-Yang syndrome in Japan.
Journal: Journal of human genetics
Published: July 26, 2022
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Journal: American journal of medical genetics. Part A
Published: April 29, 2022
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.
Journal: Internal medicine (Tokyo, Japan)
Published: August 26, 2021
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Journal: American journal of human genetics
Published: June 04, 2021
Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.
Journal: Thyroid : official journal of the American Thyroid Association
Published: May 29, 2021
Regional Difference in Myelination in Monocarboxylate Transporter 8 Deficiency: Case Reports and Literature Review of Cases in Japan.
Journal: Frontiers in neurology
Published: February 27, 2021
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Journal: American journal of medical genetics. Part A
Published: January 09, 2021
Gitelman syndrome with transient renal tubular damage in early childhood.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: October 13, 2020
Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials.
Journal: Molecular genetics and metabolism reports
Published: July 30, 2020
Last Updated: 09/26/2026