Publications by authors named "Jun Tohyama"

78Publications

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.

Orphanet J Rare Dis 2019 12 2;14(1):277. Epub 2019 Dec 2.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Kawasumi 1, Mizuho-Cho, Mizuho-Ku, Nagoya, 467-8601, Japan.

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http://dx.doi.org/10.1186/s13023-019-1249-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6888944PMC
December 2019

Pathogenic variants of , , and associated with hypothalamic hamartoma.

Neurology 2019 07 13;93(3):e237-e251. Epub 2019 Jun 13.

From the Departments of Human Genetics (A.F., S. Mitsuhashi, T.M., A.T., S. Miyatake, N. Miyake, N. Matsumoto) and Neurosurgery (M.S.), Yokohama City University Graduate School of Medicine; Departments of Functional Neurosurgery (T.H., H. Shirozu, H.M., M.F., S.K.) and Child Neurology (J.T.), Epilepsy Center, National Hospital Organization Nishiniigata Chuo Hospital Niigata, Japan; Department of Pediatrics and Neurology (M.S.), Wayne State University, Children's Hospital of Michigan, Detroit Medical Center; Department of Pediatrics (M.K.), Showa University School of Medicine, Tokyo; Department of Biochemistry (M.N., H. Saitsu), Hamamatsu University School of Medicine; and Clinical Research Institute (Y.T.), Kanagawa Children's Medical Center, Yokohama, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000007774DOI Listing
July 2019

Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

J Hum Genet 2018 Mar 16;63(3):263-270. Epub 2018 Jan 16.

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

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http://dx.doi.org/10.1038/s10038-017-0405-8DOI Listing
March 2018

Waardenburg syndrome type IIE in a Japanese patient caused by a novel non-frame-shift duplication mutation in the SOX10 gene.

J Dermatol 2018 May 23;45(5):e110-e111. Epub 2017 Nov 23.

Department of Dermatology, Yamagata University Faculty of Medicine, Yamagata, Japan.

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http://dx.doi.org/10.1111/1346-8138.14151DOI Listing
May 2018

Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.

Brain Dev 2017 Mar 12;39(3):266-270. Epub 2016 Oct 12.

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

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http://dx.doi.org/10.1016/j.braindev.2016.09.011DOI Listing
March 2017

Hypocretin-1 levels in the cerebrospinal fluid of patients with Percheron artery infarction with or without midbrain involvement: A case series.

Medicine (Baltimore) 2016 Jul;95(29):e4281

aDepartment of Neurology, Dokkyo Medical University, Tochigi, Japan bDepartment of Neurology, Dokkyo Medical University Koshigaya Hospital, Saitama, Japan cDepartment of Clinical Medicine for Nursing, Dokkyo Medical University School of Nursing, Tochigi, Japan dDepartment of Nephrology, Shimonoseki City Hospital, Yamaguchi, Japan eDepartment of Neurology, Fujita Health University School of Medicine, Aichi, Japan fDepartment of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan gDepartment of Neuropsychiatry, Akita University School of Medicine, Akita, Japan hInternational Institute for Integrative Sleep Medicine (WPI-IIIS), University of Tsukuba, Tsukuba, Japan.

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http://dx.doi.org/10.1097/MD.0000000000004281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5265783PMC
July 2016

Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation.

Brain Dev 2016 Nov 2;38(10):950-953. Epub 2016 Jul 2.

Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Japan; Niigata University Medical and Dental Hospital, Japan.

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http://dx.doi.org/10.1016/j.braindev.2016.06.004DOI Listing
November 2016

Determination of CSF 5-methyltetrahydrofolate in children and its application for defects of folate transport and metabolism.

Clin Chim Acta 2016 Sep 27;460:120-5. Epub 2016 Jun 27.

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.cca.2016.06.032DOI Listing
September 2016

A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.

Congenit Anom (Kyoto) 2016 Nov;56(6):253-255

Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1111/cga.12172DOI Listing
November 2016

Three cases of right frontal megalencephaly: Clinical characteristics and long-term outcome.

Brain Dev 2016 Mar 26;38(3):302-9. Epub 2015 Sep 26.

Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan.

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http://dx.doi.org/10.1016/j.braindev.2015.09.005DOI Listing
March 2016

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

J Hum Genet 2015 Apr 29;60(4):167-73. Epub 2015 Jan 29.

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

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http://dx.doi.org/10.1038/jhg.2015.5DOI Listing
April 2015

Rub epilepsy in an infant with Turner syndrome.

Brain Dev 2015 Aug 3;37(7):725-8. Epub 2014 Dec 3.

Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.11.004DOI Listing
August 2015

A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.

J Hum Genet 2014 Oct 7;59(10):581-3. Epub 2014 Aug 7.

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

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http://dx.doi.org/10.1038/jhg.2014.71DOI Listing
October 2014

Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

Congenit Anom (Kyoto) 2014 Nov;54(4):243-5

Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, Japan.

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http://dx.doi.org/10.1111/cga.12069DOI Listing
November 2014

Gómez-López-Hernández syndrome in a Japanese patient: a case report.

Brain Dev 2015 Mar 21;37(3):356-8. Epub 2014 May 21.

Department of Child Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1016/j.braindev.2014.05.002DOI Listing
March 2015

Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation.

Epileptic Disord 2014 Jun;16(2):208-12

Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Niigata University Medical and Dental Hospital, Niigata, Japan.

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http://dx.doi.org/10.1684/epd.2014.0649DOI Listing
June 2014

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.

Neurology 2013 Sep 9;81(11):992-8. Epub 2013 Aug 9.

From the Department of Human Genetics (K. Nakamura, K. Nishiyama, H.K., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.), Yokohama City University Graduate School of Medicine, Yokohama; Department of Pediatrics (K. Nakamura, M.K., K. Hayasaka), Yamagata University Faculty of Medicine, Yamagata; Division of Neurology (H.O., S.Y., M. Okuda, T.W.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Child Neurology (E.N.), National Center Hospital, National Center of Neurology and Psychiatry, Tokyo; Department of Pediatric Neurology (K. Haginoya), Takuto Rehabilitation Center for Children, Sendai; Department of Pediatrics (J.T.), Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata; Department of Pediatrics (S.S.), Osaka Medical College Hospital, Osaka; National Epilepsy Center (K.I.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka; Department of Pediatrics (S.T.), Yokohama City University Medical Center, Yokohama; Department of Pediatrics (H.I.), Tokyo Metropolitan Bokuto Hospital, Tokyo, Japan; Metabolic Neurogenetic Clinic (D.L., T.L.-S.), Wolfson Medical Center, Holon, Israel; Department of Human Genetics (D.E.C.-B., C.E.V.), National Institute of Pediatrics, Mexico City, Mexico; Division of Child Neurology (M. Ohfu), Okinawa Nanbu Medical Center and Children's Medical Center, Okinawa, Japan; Institute of Medical Genetics (K.W.), University Medical Center Ljubljana; Department of Child, Adolescent and Developmental Neurology (B.G.S.), University Children's Hospital, Ljubljana, Slovenia; Department of Neurology (S.H.), Nagano Children's Hospital, Nagano, Japan; Department of Obstetrics and Gynecology (D.C.), The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto; and Division of Clinical and Metabolic Genetics (D.C., D.M.R.), The Hospital for Sick Children, University of Toronto, Canada.

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http://www.neurology.org/content/early/2013/08/09/WNL.0b013e
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http://www.neurology.org/cgi/doi/10.1212/WNL.0b013e3182a43e5
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http://dx.doi.org/10.1212/WNL.0b013e3182a43e57DOI Listing
September 2013

Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome.

Pediatr Neurol 2013 Nov 2;49(5):364-7. Epub 2013 Aug 2.

Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2013.05.014DOI Listing
November 2013

Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.

Clin J Am Soc Nephrol 2013 Apr 10;8(4):629-36. Epub 2013 Jan 10.

Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.

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http://dx.doi.org/10.2215/CJN.08780812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613961PMC
April 2013

Early-onset absence epilepsy at eight months of age.

Epileptic Disord 2011 Dec;13(4):417-21

Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata.

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http://dx.doi.org/10.1684/epd.2011.0477DOI Listing
December 2011

Acute encephalopathy in children with Dravet syndrome.

Epilepsia 2012 Jan 16;53(1):79-86. Epub 2011 Nov 16.

Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo-ku, Tokyo, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03311.xDOI Listing
January 2012

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Brain Dev 2012 Aug 15;34(7):601-4. Epub 2011 Oct 15.

Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Nishi-ku, Niigata, Japan.

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http://dx.doi.org/10.1016/j.braindev.2011.09.014DOI Listing
August 2012

West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.

Am J Med Genet A 2011 Oct 9;155A(10):2584-8. Epub 2011 Sep 9.

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Japan.

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http://dx.doi.org/10.1002/ajmg.a.34224DOI Listing
October 2011

Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation.

Pediatr Neurol 2011 Sep;45(3):193-6

Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.04.010DOI Listing
September 2011

Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapy.

J Child Neurol 2011 Jul 15;26(7):885-90. Epub 2011 Feb 15.

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1177/0883073810393307DOI Listing
July 2011

Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

Am J Med Genet A 2011 Jan 10;155A(1):130-3. Epub 2010 Dec 10.

Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Japan.

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http://dx.doi.org/10.1002/ajmg.a.33652DOI Listing
January 2011

Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype.

J Pediatr 2009 Dec 1;155(6):900-903.e1. Epub 2009 Oct 1.

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

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http://dx.doi.org/10.1016/j.jpeds.2009.06.045DOI Listing
December 2009

TULIP1 (RALGAPA1) haploinsufficiency with brain development delay.

Genomics 2009 Dec 3;94(6):414-22. Epub 2009 Sep 3.

International Research and Educational Institute for Integrated Medical Sciences (IREIIMS), Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ward, Tokyo, 162-8666, Japan.

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http://dx.doi.org/10.1016/j.ygeno.2009.08.015DOI Listing
December 2009

Stiripentol open study in Japanese patients with Dravet syndrome.

Epilepsia 2009 Nov 22;50(11):2362-8. Epub 2009 Jun 22.

Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02179.xDOI Listing
November 2009

CSF neurofilament and soluble TNF receptor 1 levels in subacute sclerosing panencephalitis.

J Neuroimmunol 2008 Dec 22;205(1-2):155-9. Epub 2008 Oct 22.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.

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http://dx.doi.org/10.1016/j.jneuroim.2008.09.011DOI Listing
December 2008

Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic study.

Pediatr Neurol 2008 Feb;38(2):104-10

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, and Department of Homeostatic Regulation and Development, Course for Biological Functions and Medical Control, Niigata Graduate School of Medical and Dental Sciences, Japan.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940700513
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http://dx.doi.org/10.1016/j.pediatrneurol.2007.08.020DOI Listing
February 2008

Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter.

Brain Dev 2008 May 11;30(5):349-55. Epub 2007 Dec 11.

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata-city, Niigata 950-2085, Japan.

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http://dx.doi.org/10.1016/j.braindev.2007.10.006DOI Listing
May 2008

Roles of matrix metalloproteinase-9 and tissue inhibitors of metalloproteinases 1 in acute encephalopathy following prolonged febrile seizures.

J Neurol Sci 2008 Mar 24;266(1-2):126-30. Epub 2007 Oct 24.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi 755-8505, Japan.

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http://dx.doi.org/10.1016/j.jns.2007.09.011DOI Listing
March 2008

Megalencephaly and polymicrogyria with polydactyly syndrome.

Pediatr Neurol 2007 Aug;37(2):148-51

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, and Department of Neurosurgery, Brain Research Institute, Niigata University, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.04.008DOI Listing
August 2007

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Am J Hum Genet 2007 Aug 11;81(2):361-6. Epub 2007 Jun 11.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, and Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1086/518903DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1950814PMC
August 2007

Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures.

Brain Dev 2008 Jan 26;30(1):47-52. Epub 2007 Jun 26.

Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1-1-1 Minamikogushi, Ube, Yamaguchi 755-8505, Japan.

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http://dx.doi.org/10.1016/j.braindev.2007.05.008DOI Listing
January 2008

Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic discharges.

Pediatr Neurol 2007 Mar;36(3):190-4

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.10.010DOI Listing
March 2007

[Symptomatic hypersomnia due to orexin deficiency in hypothalamic lesions].

No To Hattatsu 2006 Sep;38(5):340-5

Department of Psychiatry, Akita University School of Medicine.

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September 2006

Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy.

Epilepsia 2006 Jun;47(6):991-7

Department of Homeostatic Regulation and Development, Niigata Graduate School of Medical and Dental Sciences, and Department of Pediatric Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00511.xDOI Listing
June 2006

Single and multiple clusters of magnetoencephalographic dipoles in neocortical epilepsy: significance in characterizing the epileptogenic zone.

Epilepsia 2006 Feb;47(2):355-64

Department of Neurosurgery, Epilepsy Center, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Niigata City, Niigata 950-2085, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00428.xDOI Listing
February 2006

A magnetoencephalographic study of patients with Panayiotopoulos syndrome.

Epilepsia 2005 Jul;46(7):1106-13

Department of Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Niigata 950-2085, Japan.

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http://dx.doi.org/10.1111/j.1528-1167.2005.01105.xDOI Listing
July 2005

[Serial MEG change in a boy with Landau-Kleffner syndrome].

No To Hattatsu 2004 Sep;36(5):395-400

Department of Pediatrics, Epilepsy Center, National Nishi-Niigata Central Hospital, Niigata.

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September 2004

[A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste].

No To Hattatsu 2004 Jan;36(1):65-9

Department of Pediatrics, National Nishi-Niigata Central Hospital, Niigata.

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January 2004

[Hereditary metabolic disease with neonatal seizures].

Ryoikibetsu Shokogun Shirizu 2002 (37 Pt 6):274-7

Department of Pediatrics, National Nishi-Niigata Central Hospital.

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February 2003