Publications by authors named "Takashi Shiihara"

54Publications

Behavioral problems and family distress in tuberous sclerosis complex.

Epilepsy Behav 2020 10 19;111:107321. Epub 2020 Jul 19.

Department of Pediatrics, Tohoku University School of Medicine, 980-8574, Japan.

View Article and Find Full Text PDF
October 2020

Multiple cerebral cysts are another possible feature of Jacobsen syndrome.

Brain Dev 2020 09 17;42(8):626. Epub 2020 Jul 17.

Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.

View Article and Find Full Text PDF
September 2020

A case of pyridoxine-dependent epilepsy with novel mutations.

Oxf Med Case Reports 2020 Mar 6;2020(3):omaa008. Epub 2020 May 6.

Department of Neurology, Gunma Children's Medical Centre, Shibukawa, Gunma, Japan.

View Article and Find Full Text PDF
March 2020

Sweet Potato Was Not So Sweet: Undetected Foreign-body Aspiration in a Healthy Child Leading to Acute Bronchial Asthma.

Tokai J Exp Clin Med 2019 Apr 20;44(1):1-4. Epub 2019 Apr 20.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
April 2019

Rhinovirus-associated acute encephalitis/encephalopathy and cerebellitis.

Brain Dev 2019 Jun 6;41(6):551-554. Epub 2019 Mar 6.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
June 2019

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

Authors:
Daniela A Braun Jia Rao Geraldine Mollet David Schapiro Marie-Claire Daugeron Weizhen Tan Olivier Gribouval Olivia Boyer Patrick Revy Tilman Jobst-Schwan Johanna Magdalena Schmidt Jennifer A Lawson Denny Schanze Shazia Ashraf Jeremy F P Ullmann Charlotte A Hoogstraten Nathalie Boddaert Bruno Collinet Gaëlle Martin Dominique Liger Svjetlana Lovric Monica Furlano I Chiara Guerrera Oraly Sanchez-Ferras Jennifer F Hu Anne-Claire Boschat Sylvia Sanquer Björn Menten Sarah Vergult Nina De Rocker Merlin Airik Tobias Hermle Shirlee Shril Eugen Widmeier Heon Yung Gee Won-Il Choi Carolin E Sadowski Werner L Pabst Jillian K Warejko Ankana Daga Tamara Basta Verena Matejas Karin Scharmann Sandra D Kienast Babak Behnam Brendan Beeson Amber Begtrup Malcolm Bruce Gaik-Siew Ch'ng Shuan-Pei Lin Jui-Hsing Chang Chao-Huei Chen Megan T Cho Patrick M Gaffney Patrick E Gipson Chyong-Hsin Hsu Jameela A Kari Yu-Yuan Ke Cathy Kiraly-Borri Wai-Ming Lai Emmanuelle Lemyre Rebecca Okashah Littlejohn Amira Masri Mastaneh Moghtaderi Kazuyuki Nakamura Fatih Ozaltin Marleen Praet Chitra Prasad Agnieszka Prytula Elizabeth R Roeder Patrick Rump Rhonda E Schnur Takashi Shiihara Manish D Sinha Neveen A Soliman Kenza Soulami David A Sweetser Wen-Hui Tsai Jeng-Daw Tsai Rezan Topaloglu Udo Vester David H Viskochil Nithiwat Vatanavicharn Jessica L Waxler Klaas J Wierenga Matthias T F Wolf Sik-Nin Wong Sebastian A Leidel Gessica Truglio Peter C Dedon Annapurna Poduri Shrikant Mane Richard P Lifton Maxime Bouchard Peter Kannu David Chitayat Daniella Magen Bert Callewaert Herman van Tilbeurgh Martin Zenker Corinne Antignac Friedhelm Hildebrandt

Nat Genet 2017 Oct 14;49(10):1529-1538. Epub 2017 Aug 14.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
October 2017

A case of mumps-related acute encephalopathy with biphasic seizures and late reduced diffusion.

Brain Dev 2017 Oct 10;39(9):808-810. Epub 2017 May 10.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
October 2017

Mucolipidosis IV: A milder form with novel mutations and serial MRI findings.

Brain Dev 2016 Sep 28;38(8):763-7. Epub 2016 Feb 28.

Division of Medical Genetics, Gunma Children's Medical Center, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
September 2016

Response.

Pediatr Neurol 2015 Jun 6;52(6):e13. Epub 2015 Mar 6.

Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.

View Article and Find Full Text PDF
June 2015

Protein-losing enteropathy as a rare complication of the ketogenic diet.

Pediatr Neurol 2015 May 26;52(5):526-8. Epub 2015 Jan 26.

Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.

View Article and Find Full Text PDF
May 2015

Clinically mild encephalitis with a reversible splenial lesion (MERS) after mumps vaccination.

J Neurol Sci 2015 Feb 18;349(1-2):226-8. Epub 2014 Dec 18.

Department of Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

View Article and Find Full Text PDF
February 2015

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

Brain Dev 2015 Aug 8;37(7):714-8. Epub 2014 Nov 8.

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Japan; Developmental Medical Sciences, Graduate School of Medicine, The University of Tokyo, Japan.

View Article and Find Full Text PDF
August 2015

A novel PLP1 frameshift mutation causing a milder form of Pelizaeus-Merzbacher disease.

Brain Dev 2015 Apr 16;37(4):455-8. Epub 2014 Jul 16.

Division of Medical Genetics, Gunma Children's Medical Center, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
April 2015

Another case of respiratory syncytial virus-related limbic encephalitis.

Neuroradiology 2014 May 21;56(5):435-6. Epub 2014 Mar 21.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma, 377-8577, Japan,

View Article and Find Full Text PDF
May 2014

Serum and CSF biomarkers in acute pediatric neurological disorders.

Brain Dev 2014 Jun 11;36(6):489-95. Epub 2013 Jul 11.

Department of Pediatrics, Yamagata University Faculty of Medicine, 2-2-2 Iida-Nishi, Yamagata-shi, Yamagata 990-9585, Japan.

View Article and Find Full Text PDF
June 2014

Respiratory syncytial virus-associated encephalopathy complicated by congenital myopathy.

Pediatr Int 2012 Oct;54(5):709-11

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

View Article and Find Full Text PDF
October 2012

Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.

Brain Dev 2011 Aug 30;33(7):604-7. Epub 2010 Oct 30.

Department of Neurology, Gunma Children's Medical Center, Gunma, Japan.

View Article and Find Full Text PDF
August 2011

Peripheral lymphocyte subset and serum cytokine profiles of patients with West syndrome.

Brain Dev 2010 Oct 1;32(9):695-702. Epub 2009 Dec 1.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
October 2010

Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency.

Brain Dev 2010 Jun 10;32(6):506-10. Epub 2009 Jun 10.

Department of Child Neurology, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan.

View Article and Find Full Text PDF
June 2010

A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.

Brain Dev 2010 Jun 23;32(6):502-5. Epub 2009 May 23.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
June 2010

A patient with early onset Huntington disease and severe cerebellar atrophy.

Am J Med Genet A 2009 Feb;149A(4):598-601

Division of Medical Genetics, Gunma Children's Medical Center, Gunma, Japan.

View Article and Find Full Text PDF
February 2009

Rotavirus associated acute encephalitis/encephalopathy and concurrent cerebellitis: report of two cases.

Brain Dev 2007 Nov 29;29(10):670-3. Epub 2007 May 29.

Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan.

View Article and Find Full Text PDF
November 2007

Acute cerebellar ataxia and consecutive cerebellitis produced by glutamate receptor delta2 autoantibody.

Brain Dev 2007 May 16;29(4):254-6. Epub 2006 Oct 16.

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

View Article and Find Full Text PDF
May 2007

Costello syndrome showing moyamoya-like vasculopathy.

Pediatr Neurol 2005 May;32(5):361-3

Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.

View Article and Find Full Text PDF
May 2005

Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP.

J Neurol Sci 2004 Oct;225(1-2):125-7

Department of Pediatrics, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.

View Article and Find Full Text PDF
October 2004