Cover
(Source: Brain and Development)
Source: Brain and Development - March 27, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - March 27, 2023 Category: Neurology Source Type: research
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study-
This study aimed to establish an optional newborn screening program for spinal muscular atrophy (SMA-NBS) in Osaka. (Source: Brain and Development)
Source: Brain and Development - March 26, 2023 Category: Neurology Authors: Tomokazu Kimizu, Shinobu Ida, Keisuke Oki, Morimasa Shima, Shizuka Nishimoto, Ken Nakajima, Tae Ikeda, Yukiko Mogami, Keiko Yanagihara, Keiko Matsuda, Eriko Nishi, Yuiko Hasegawa, Masatoshi Nozaki, Hiroshi Fujita, Akemi Irie, Toru Katayama, Nobuhiko Okamo Tags: Original article Source Type: research
Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years
Acute necrotizing encephalopathy (ANE) of childhood is a rare and devastating infection-associated acute encephalopathy. While there are no consensus treatments for ANE, recent case reports suggest a beneficial role for the use of tocilizumab, a recombinant humanized monoclonal antibody against the interleukin-6 (IL-6) receptor. The correlation of the timing of add-on tocilizumab in relation to long-term outcome has not been reported. (Source: Brain and Development)
Source: Brain and Development - March 24, 2023 Category: Neurology Authors: Patrick H. Hosie, Carylyn Lim, Timothy R.D. Scott, Michael Cardamone, Michelle A. Farrar, Catherine Frith, Peter I. Andrews, Jason Pinner, Sekhar Pillai Tags: Case Report Source Type: research
Greetings from the new Editor-in-Chief
As I assume the role of new Editor-in-Chief of Brain& Development, I would like to express my deep respect for the contributions of Dr. Yukio Fukuyama, the founding Editor-in-Chief, and his successors, Dr. Yoshiyuki Suzuki, Dr. Makiko Kaga, Dr. Masashi Mizuguchi and Dr. Katsuhiro Kobayashi. Together with many former editors and editorial board members, these editors have built Brain& Development into what it is today. They have worked tirelessly with countless editors and editorial board members to constantly improve the journal, and all their efforts are commendable. (Source: Brain and Development)
Source: Brain and Development - March 24, 2023 Category: Neurology Authors: Masafumi Morimoto Tags: Editorial Source Type: research
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation
We report a female case of EMAtS and mild developmental delay before onset. Importantly, a de novo balanced chromosomal translocation was recognized in the patient. (Source: Brain and Development)
Source: Brain and Development - March 23, 2023 Category: Neurology Authors: Tatsuo Mori, Masamune Sakamoto, Takahiro Tayama, Aya Goji, Yoshihiro Toda, Atsushi Fujita, Takeshi Mizuguchi, Maki Urushihara, Naomichi Matsumoto Tags: Case Report Source Type: research
Introduction of the new Editor-in-Chief of Brain & Development
Dr. Masafumi Morimoto has just taken office as the new Editor-in-Chief of Brain& Development. Dr. Morimoto is Professor in the Division of Pediatrics, Department of Medical Science, School of Nursing, Kyoto Prefectural University of Medicine, Kyoto, Japan. He is an eminent researcher and clinician engaged in child neurology, and has treated many pediatric patients with neurological disorders, published numerous papers, and trained a number of young pediatric neurologists. (Source: Brain and Development)
Source: Brain and Development - March 23, 2023 Category: Neurology Authors: Katsuhiro Kobayashi Tags: Editorial Source Type: research
Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study
Muscle cramps are a common problem characterized by a sudden, painful, and involuntary contraction of a muscle or muscle group. Most muscle cramps develop in the calf muscles, particularly in situations of prolonged exercise; however, some may be related to underlying systemic conditions such as the hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome. Muscle cramps appear to be the initial symptom of the HANAC syndrome; however, the clinical characteristics of these muscle cramps have rarely been described in detail. (Source: Brain and Development)
Source: Brain and Development - March 14, 2023 Category: Neurology Authors: Shunsuke Haga, Ryo Takeguchi, Ryosuke Tanaka, Akira Satake, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi Tags: Case Report Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - March 7, 2023 Category: Neurology Source Type: research
Cover
(Source: Brain and Development)
Source: Brain and Development - March 7, 2023 Category: Neurology Source Type: research
Contents
(Source: Brain and Development)
Source: Brain and Development - March 7, 2023 Category: Neurology Source Type: research
Pre-movement gating of somatosensory evoked potentials in tourette syndrome
Tourette syndrome (TS) is a neurobehavioral disorder characterized by motor and vocal tics. Simple tics are purposeless involuntary movements that spontaneously resolve during middle adolescence. Complex tics appear to be semi-voluntary movements that may become intractable when associated with obsessive –compulsive disorder (OCD). Sensory tics or urges preceded by tics suggest sensorimotor processing impairment in TS. We aimed to clarify its pathophysiology by exploring the pre-movement gating (attenuation) of somatosensory evoked potentials (SEPs). (Source: Brain and Development)
Source: Brain and Development - March 4, 2023 Category: Neurology Authors: Kazue Kimura, Nagako Murase, Yuri Nagao, Maki Nozaki, Michio Fukumizu, Yosuke Kita, Masaharu Hayashi, Kyoko Hoshino Tags: Original article Source Type: research
Efficacy, tolerability and safety of perampanel in children and adolescents with epilepsy: Systematic review and meta-analysis
Perampanel (PER) is a novel antiepileptic drug. The efficacy, tolerability and safety of PER in children and adolescents with epilepsy are still unclear. We aimed to study the efficacy and safety of PER in children and adolescents with epilepsy. (Source: Brain and Development)
Source: Brain and Development - March 4, 2023 Category: Neurology Authors: Sujuan Sun, Xiangliang Li, Xuewu Liu Tags: Review article Source Type: research
Chaperone therapy for lysosomal and non-lysosomal protein misfolding diseases
Chaperone therapy was introduced first as a new molecular therapeutic approach to lysosomal diseases. In a recent article, I reviewed the development of chaperone therapy mainly for lysosomal diseases. Then, more data have been collected particularly on non-lysosomal protein misfolding diseases. In this short review, I propose the concept of chaperone therapy to be classified into two different therapeutic approaches, for pH-dependent lysosomal, and pH-independent non-lysosomal protein misfolding diseases. (Source: Brain and Development)
Source: Brain and Development - March 2, 2023 Category: Neurology Authors: Yoshiyuki Suzuki Tags: Review article Source Type: research
Efficacy of sirolimus for epileptic seizures in childhood associated with focal cortical dysplasia type II
The efficacy of the mechanistic target of rapamycin inhibitor, sirolimus, was recently reported for patients more than 6 years of age by Kato et al. We evaluated the efficacy and safety of sirolimus in a 2-year-old patient with recurrent focal seizures with impaired consciousness after focal cortical dysplasia (FCD) type IIa resection. (Source: Brain and Development)
Source: Brain and Development - March 2, 2023 Category: Neurology Authors: Hideaki Shiraishi, Tsuyoshi Teramoto, Saki Yokoshiki, Jun Tohyama, Yuki Ueda, Kiyoshi Egawa, Norihiro Sato, Atsushi Manabe, Mitsuhiro Kato Tags: Case Report Source Type: research
