November 29, 2022

Muscle impairment in MRI affect variability in treatment response to nusinersen in patients with spinal muscular atrophy type 2 and 3: A retrospective cohort study

  • Yuko Shimizu-Motohashi,
  • Emiko Chiba,
  • Katsuhiro Mizuno,
  • ...
  • Masayuki Sasaki,
  • Shuichi Ito,
  • Hirofumi Komaki
Published online: November 29, 2022
Open Access

November 26, 2022

A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot

  • Davide POLITANO,
  • Simone GANA,
  • Elena PEZZOTTI,
  • ...
  • Anna PICHIECCHIO,
  • Enza Maria VALENTE,
  • Edoardo ERRICHIELLO
Published online: November 26, 2022

Changes in the treatment of pediatric acute encephalopathy in Japan between 2015 and 2021: A national questionnaire-based survey

  • Yuka Murofushi,
  • Hiroshi Sakuma,
  • Hiroko Tada,
  • Masashi Mizuguchi,
  • Jun-ichi Takanashi
Published online: November 26, 2022
Open Access

November 24, 2022

Identification of a novel BICRA variant leading to the newly described Coffin–Siris syndrome 12

  • Greta Asadauskaitė,
  • Aušra Morkūnienė,
  • Algirdas Utkus,
  • Birutė Burnytė
Published online: November 24, 2022

November 21, 2022

Gait performance and dual-task costs in school-aged children with Down syndrome

  • Yuji Ito,
  • Tadashi Ito,
  • Atsuko Ohno,
  • ...
  • Koji Noritake,
  • Jun Natsume,
  • Nobuhiko Ochi
Published online: November 21, 2022

November 7, 2022

Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study

  • Kento Ohta,
  • Tohru Okanishi,
  • Michiru Sasaki,
  • Tatsuya Kawaguchi,
  • Jun Murakami,
  • Yoshihiro Maegaki
Published online: November 07, 2022

November 4, 2022

Neurovisual profile in children affected by Angelman syndrome

  • Jessica Galli,
  • Erika Loi,
  • Caterina Strobio,
  • ...
  • Francesco Semeraro,
  • Elisa Fazzi
  • AS Collaborative Group
Published online: November 04, 2022

November 3, 2022

A pediatric case of autoimmune encephalitis with chronologically moving seizure foci and cortical lesions: A case report

  • Yuto Arai,
  • Tohru Okanishi,
  • Kensuke Kumasaki,
  • ...
  • Yoko Nishimura,
  • Yukitoshi Takahashi,
  • Yoshihiro Maegaki
Published online: November 03, 2022

November 2, 2022

Long-term efficacy of nusinersen and its evaluation in adolescent and adult patients with spinal muscular atrophy types 1 and 2

  • Hideyuki Iwayama,
  • Kohei Kawahara,
  • Mizuki Takagi,
  • ...
  • Shinya Kimura,
  • Toshiyuki Kumagai,
  • Akihisa Okumura
Published online: November 02, 2022

October 31, 2022

Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus

  • Kenji Uematsu,
  • Hiroshi Matsumoto,
  • Kiyotaka Zaha,
  • Masashi Mizuguchi,
  • Shigeaki Nonoyama
Published online: October 31, 2022

October 28, 2022

Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates

  • Hiroki Kawai,
  • Shigeo Takashima,
  • Akiko Ohba,
  • ...
  • Kazuo Kubota,
  • Hidenori Ohnishi,
  • Nobuyuki Shimozawa
Published online: October 28, 2022

October 26, 2022

Neurological prognostic factors for human herpes virus 6/7-associated acute encephalopathy in children: A single-center study

  • Yoshihiro Watanabe,
  • Mao Odaka,
  • Hirotaka Motoi,
  • Yoshitaka Oyama,
  • Kentaro Shiga,
  • Shuichi Ito
Published online: October 26, 2022

Nationwide survey of childhood Guillain-Barré syndrome, Fisher syndrome, and Bickerstaff brainstem encephalitis in Japan

  • Katsunori Fujii,
  • Tadashi Shiohama,
  • Tomoko Uchida,
  • ...
  • Naoki Shimojo,
  • Sonoko Misawa,
  • Satoshi Kuwabara
Published online: October 26, 2022

October 14, 2022

Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis

  • Prateek Kumar Panda,
  • Indar Kumar Sharawat,
  • Aparna Ramachandran,
  • ...
  • Sanjot Bhardwaj,
  • Vignesh Kaniyappan Murugan,
  • Rajkali Rajendiran
Published online: October 14, 2022

October 8, 2022

Perinatal lethal Gaucher disease: A case report and review of literature

  • Rie Chida,
  • Masaru Shimura,
  • Yu Ishida,
  • Yusuke Suganami,
  • Gaku Yamanaka
Published online: October 08, 2022

October 6, 2022

Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy

  • Yoshiyuki Kobayashi,
  • Nobutsune Ishikawa,
  • Yuichi Tateishi,
  • ...
  • Syohei Eto,
  • Yuta Eguchi,
  • Satoshi Okada
Published online: October 06, 2022

October 1, 2022

September 30, 2022

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep

  • Safiye Gunes Sager,
  • Ayberk Turkyilmaz,
  • Hediye Pınar Gunbey,
  • Elif Yuksel Karatoprak,
  • Elif Sibel Aslan,
  • Yasemin Akın
Published online: September 30, 2022

September 29, 2022

September 20, 2022

First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing

  • Yosuke Miyamoto,
  • Tetsuya Okazaki,
  • Keisuke Watanabe,
  • ...
  • Chisato Tamai,
  • Jun Sone,
  • Yoshihiro Maegaki
Published online: September 20, 2022

September 17, 2022

Immediate and progressive neurological damage after electrical injury: A pediatric case report

  • Alfonso Rubino,
  • Pia Bernardo,
  • Carmela Russo,
  • ...
  • Pasquale Striano,
  • Geremia Zito Marinosci,
  • Antonio Varone
Published online: September 17, 2022

September 15, 2022

September 14, 2022

Drug-resistant temporal lobe epilepsy due to middle fossa meningoencephalocele in a child: A surgical case report

  • Yasuo Sunaga,
  • Yutaro Takayama,
  • Suguru Yokosako,
  • ...
  • Masahiko Tashiro,
  • Masaki Iwasaki,
  • Masayuki Sasaki
Published online: September 14, 2022

ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report

  • Kengo Moriyama,
  • Tomoko Mizuno,
  • Tomonori Suzuki,
  • ...
  • Atsushi Fujita,
  • Mitsuhiro Kato,
  • Naomichi Matsumoto
Published online: September 14, 2022

May 13, 2021

WITHDRAWN: Schuurs‐Hoeijmakers syndrome: Severe expression of the recurrent PACS1 c.607C>T mutation

  • Simone Gana,
  • Federica Morelli,
  • Massimo Plumari,
  • Anna Pichiecchio,
  • Sabrina Signorini,
  • Enza Maria Valente
Published online: May 13, 2021

May 25, 2017

WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease

  • Lifang Dai,
  • Tongli Han,
  • Xinying Yang,
  • ...
  • Wuchang Zhang,
  • Xiaotun Ren,
  • Fang Fang
Published online: May 25, 2017
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