Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report
Pathogenic truncating variants in SMC1A, which is located on chromosome Xp11.2, are known to cause infantile-onset epilepsy and severe intellectual disability in girls. Several studies have reported a correlation between SMC1A truncations and seizure clustering; however, the associated electroencephalogram (EEG) patterns remain largely unknown. (Source: Brain and Development)
Source: Brain and Development - May 16, 2022 Category: Neurology Authors: Kazuhiko Hashimoto, Shimpei Baba, Eiji Nakagawa, Noriko Sumitomo, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Takashi Saito, Chihiro Abe-Hatano, Ken Inoue, Aritoshi Iida, Masayuki Sasaki, Yu-ichi Goto Tags: Case Report Source Type: research
The diagnostic values of red flags in pediatric patients with headache
Headache is a common complaint in childhood and adolescence. Differentiating benign primary headaches from ominous secondary headaches is often difficult. Clinicians usually seek red flags to determine the need for neuroimaging. We aimed to evaluate the diagnostic values of red flags in pediatric headaches. (Source: Brain and Development)
Source: Brain and Development - May 11, 2022 Category: Neurology Authors: Eu Gene Park, Il Han Yoo Source Type: research
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with aphasia is a rare disorder, with the associated aphasia reported as either Wernicke ’s or Broca’s. Herein, we report a patient with MELAS complicated by thalamic aphasia. (Source: Brain and Development)
Source: Brain and Development - May 10, 2022 Category: Neurology Authors: Yurie Sakata, Takuji Nakamura, Fumio Ichinose, Muneaki Matsuo Tags: Case Report Source Type: research
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant
In this study, we report the long-term course of a case of SMA-LED2 in comparison with previous reports. (Source: Brain and Development)
Source: Brain and Development - May 5, 2022 Category: Neurology Authors: Kosuke Yamamoto, Kei Ohashi, Masanori Fujimoto, Daisuke Ieda, Yuji Nakamura, Ayako Hattori, Tadashi Kaname, Kuniko Ieda, Ichizo Nishino, Shinji Saitoh Tags: Case Report Source Type: research
A novel ZC4H2 variant in a female with severe respiratory complications
An X-linked ZC4H2 variant is associated with a variety of phenotypes that have abnormalities related to external malformation and neurodevelopment. There have been no reports on severe respiratory dysfunction resulting in surgical treatments not being possible due to the deformity resulting from in this disease. Here we report a female with arthrogryposis multiplex congenita with a severe respiratory complication. (Source: Brain and Development)
Source: Brain and Development - April 30, 2022 Category: Neurology Authors: Tomohiro Wakabayashi, Miyako Mizukami, Kojiro Terada, Aki Ishikawa, Shiro Hinotsu, Masaki Kobayashi, Koji Kato, Tomoo Ogi, Takeshi Tsugawa, Akihiro Sakurai Tags: Case Report Source Type: research
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms
Adrenocorticotropic hormone (ACTH) therapy is a first-line treatment for infantile spasms, which may rarely cause intracranial hemorrhage. However, the changes in blood coagulation during ACTH therapy are poorly understood, with little description in the management guidelines. (Source: Brain and Development)
Source: Brain and Development - April 29, 2022 Category: Neurology Authors: Yoko Takeda, Takafumi Sakakibara, Kenichi Ogiwara, Keiji Nogami Tags: Original article Source Type: research
Novel and recurrent ASPM mutations of founder effect in Chinese population
This study aimed to identify the common pathogenic variants of ASPM and estimated the incidence of MCPH5 in Guangxi population. (Source: Brain and Development)
Source: Brain and Development - April 28, 2022 Category: Neurology Authors: Mengting Li, Jingrong Luo, Qi Yang, Fei Chen, Jie Chen, Jiayi Qin, Wei He, Junjie Chen, Sheng Yi, Zailong Qin, Shang Yi, Limei Huang, Xiaoxia Qiu, Pingshan Pan, Jingsi Luo, Yiping Shen Source Type: research
Sex interaction of white matter microstructure and verbal IQ in corpus callosum in typically developing children and adolescents
Childhood is an extremely important time for neural development that has a critical role in human intelligence. Efficient information processing is crucial for higher intelligence, so the intra- or inter-hemispheric interaction is vital. However, the relationship between neuroanatomical connections and intelligence in typically developing children, as well as sex differences in this relationship, remains unknown. (Source: Brain and Development)
Source: Brain and Development - April 27, 2022 Category: Neurology Authors: Susumu Yokota, Hikaru Takeuchi, Kohei Asano, Michiko Asano, Yuko Sassa, Yasuyuki Taki, Ryuta Kawashima Tags: Original article Source Type: research
Editorial Board
(Source: Brain and Development)
Source: Brain and Development - April 24, 2022 Category: Neurology Source Type: research
Announcements
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Source: Brain and Development - April 24, 2022 Category: Neurology Source Type: research
Cover
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Source: Brain and Development - April 24, 2022 Category: Neurology Source Type: research
Contents
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Source: Brain and Development - April 24, 2022 Category: Neurology Source Type: research
Cerebral white matter abnormalities associated with chromosome 18q duplication
Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication patients may have seizures and developmental impairment, brain MRI typically shows only variable degrees of cerebral atrophy. (Source: Brain and Development)
Source: Brain and Development - April 22, 2022 Category: Neurology Authors: Jiayin Huang, Christine Saint-Martin, Guergana Tchakarska, Jos ée Lavoie, Kenneth A. Myers Tags: Case Report Source Type: research
De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum
Heterozygous POLR2A variants have been recently reported in patients with a neurodevelopmental syndrome characterized by profound infantile-onset hypotonia. POLR2A encodes the highly conserved RBP1 protein, an essential subunit of the DNA-dependent RNA polymerase II. (Source: Brain and Development)
Source: Brain and Development - April 20, 2022 Category: Neurology Authors: Thea Giacomini, Marcello Scala, Giulia Nobile, Mariasavina Severino, Domenico Tortora, Lino Nobili, Andrea Accogli, Annalaura Torella, Valeria Capra, Maria Margherita Mancardi, Vincenzo Nigro, TUDP study group Tags: Case Report Source Type: research
Early maladaptive schemas differing according to sex may contribute to migraine among the youth
This study examined the effects of sex on early maladaptive schemas (EMSs) and the clinical characteristics of migraine in adolescents with migraine. (Source: Brain and Development)
Source: Brain and Development - April 19, 2022 Category: Neurology Authors: G ülen Güler Aksu, Ozan Kayar, Ali Evren Tufan, Meryem Özlem Kütük, Damla Hazal Sucu, Bahar Taşdelen, Fevziye Toros, Aynur Özge Tags: Original article Source Type: research
