The effect of different dietary structure on gastrointestinal dysfunction in children with cerebral palsy and epilepsy based on gut microbiota
Gastrointestinal (GI) difficulties are very common among children with cerebral palsy (CP) and comorbid epilepsy. GI function is influenced by dietary structure on gut microbiota. The aim of this study was to compare gut microbiota differences in two dietary groups of this population and examine whether such differences are related to GI dysfunction. (Source: Brain and Development)
Source: Brain and Development - October 15, 2020 Category: Neurology Authors: Congfu Huang, Xiuyun Li, Liping Wu, GenFeng Wu, Peiqin Wang, Yuanping Peng, Shuyuan Huang, Zhenyu Yang, Wenkui Dai, Lan Ge, Yansi Lyu, Linlin Wang, Anquan Zhang Tags: Original article Source Type: research

A fact-finding survey of the recommendation on sedation during physiological examinations such as electroencephalogram in Japan
Control of body movement is often required during medical examinations. However, particularly in children, it is difficult to keep them still during examinations as they conversely cry or attempt to escape. In these cases, sedatives are often required. Because sedatives have adverse effects including respiratory failure, medical staff need careful attention for their patients ’ safely. The Japan Pediatric Society, the Japanese Society of Pediatric Anesthesiology, and the Japanese Society of Pediatric Radiology published “Joint Recommendation on Sedation during Magnetic Resonance Imaging (MRI) Examination (MRI R...
Source: Brain and Development - October 14, 2020 Category: Neurology Authors: Seigo Korematsu, Yusaku Miyamoto, Kazuhiro Muramatsu, Gaku Yamanaka, Madoka Hoshide, Rie Miyata, Susumu Ito, Shoko Shimokawa, Masakazu Mimaki, Hideo Yamanouchi Tags: Original article Source Type: research

Reply to: “Letter: Two cases of persistent falcine and occipital sinuses”
We appreciate the comments of Balak Naci [1] on our manuscript, “Two cases of persistent falcine and occipital sinuses” [2]. He pointed out that an occipital sinus is commonly encountered during autopsy (>60%) [3], and emphasized the importance of checking for an occipital sinus prior to a neurosurgical procedure. (Source: Brain and Development)
Source: Brain and Development - October 13, 2020 Category: Neurology Authors: Takehiko Inui, Yoshihisa Shimanuki, Harushi Mori, Kazuhiro Haginoya Tags: Reply Source Type: research

Reversible splenial lesion syndrome associated with SARS-CoV-2 infection in two children
We report two children with multisystem inflammatory syndrome-children related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed RESLES during the disease course. (Source: Brain and Development)
Source: Brain and Development - October 13, 2020 Category: Neurology Authors: Gonca Bekta ş, Nihal Akçay, Kübra Boydağ, Esra Şevketoğlu Tags: Original article Source Type: research

Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrome) is a rare genetic disorder associated with severe intrauterine growth retardation, short stature, microcephaly, brain anomalies, stunted limbs, and early mortality. RNU4ATAC, the gene responsible for this disorder, does not encode a protein but instead the U4atac small nuclear RNA (snRNA), a crucial component of the minor spliceosome. Roifman syndrome is an allelic disorder of MOPD I that is characterized by immunodeficiency complications. (Source: Brain and Development)
Source: Brain and Development - October 12, 2020 Category: Neurology Authors: Hidetoshi Hagiwara, Hiroshi Matsumoto, Kenji Uematsu, Kiyotaka Zaha, Yujin Sekinaka, Noriko Miyake, Naomichi Matsumoto, Shigeaki Nonoyama Tags: Case Report Source Type: research

Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by homozygous deletion of SMN1 exons 7 and 8. However, exon 8 is retained in some cases, where SMN2 exon 7 recombines with SMN1 exon 8, forming a hybrid SMN gene. It remains unknown how the hybrid SMN gene contribute to the SMA phenotype. (Source: Brain and Development)
Source: Brain and Development - October 5, 2020 Category: Neurology Authors: Emma Tabe Eko Niba, Hisahide Nishio, Yogik Onky Silvana Wijaya, Poh San Lai, Takenori Tozawa, Tomohiro Chiyonobu, Misaki Yamadera, Kentaro Okamoto, Hiroyuki Awano, Yasuhiro Takeshima, Toshio Saito, Masakazu Shinohara Tags: Original article Source Type: research

Corrigendum to ‘Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy’ [Brain Dev. 42(6) (2020) 438–448]
The authors regret (Source: Brain and Development)
Source: Brain and Development - September 28, 2020 Category: Neurology Authors: Ji-Hoon Na, Saeam Shin, Donghwa Yang, Borahm Kim, Heung Dong Kim, Sehee Kim, Joon-Soo Lee, Jong-Rak Choi, Seung-Tae Lee, Hoon-Chul Kang Tags: Corrigendum Source Type: research

Severe pallid breath-holding spells treated with low-dose theophylline
The medical treatment for severe pallid breath-holding spells accompanied with severe bradycardia or transient cardiac arrest is controversial. Although various medications have been reported to be effective, patients treated with pacemaker insertion are not always evaluated for pharmacological therapy beforehand. (Source: Brain and Development)
Source: Brain and Development - September 24, 2020 Category: Neurology Authors: Ayami Sato, Yoichiro Oda, Hiroko Asakai Tags: Case Report Source Type: research

Do low birth weight infants not see eyes? Face recognition in infancy
Progress in neonatal medicine has dramatically improved the survival rate of preterm births, but the evidence suggests that these low-birth weight infants (LBWIs) go on to develop pervasive development disorders and attention deficit hyperactivity disorder (ADHD) at greater rates than the general population. Children with neurodevelopmental disorders are known to suffer from deficits in visual cognition, such as in face perception and attentional functions, the characteristics of which already manifest in early infancy. (Source: Brain and Development)
Source: Brain and Development - September 24, 2020 Category: Neurology Authors: Mayumi Yamamoto, Yukihiko Konishi, Ikuko Kato, Kosuke Koyano, Shinji Nakamura, Tomoko Nishida, Takashi Kusaka Tags: Original article Source Type: research

A longitudinal cohort study of childhood MMR vaccination and seizure disorder among American children
Measles (rubeola) is a highly contagious infectious disease with significant morbidity/mortality. Measles-Mumps-Rubella (MMR) is a live-attenuated vaccine used in the United States (US) to prevent measles. This retrospective longitudinal cohort study evaluated childhood MMR vaccination and the risk of a seizure episode and seizure disorder. (Source: Brain and Development)
Source: Brain and Development - September 23, 2020 Category: Neurology Authors: David A. Geier, Mark R. Geier Tags: Original article Source Type: research

Two cases of persistent falcine and occipital sinuses
A clear knowledge of cerebrospinal fluid (CSF) pathways is still lacking [1,2]. The results of the article, entitled “Two cases of persistent falcine and occipital sinuses” by Inui et al. [3] and recently published in Brain& Development (2020), indicate some important clues in better understanding of the pathophysiology of the disorders which can be associated with disturbances of the CSF circulation. As the authors stated, an acquired Chiari Ⅰ malformation can be associated with a pressure gradient across the cranial and spinal compartments. (Source: Brain and Development)
Source: Brain and Development - September 22, 2020 Category: Neurology Authors: Naci Balak Tags: Letter to the Editor Source Type: research

The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 mutations in two siblings confirmed by clinical and molecular investigation
We describe two siblings who presented with similar clinical features including severe intellectual disability and epilepsy with onset of symptom in early infancy. (Source: Brain and Development)
Source: Brain and Development - September 14, 2020 Category: Neurology Authors: Sukdong Yoo, Young A. Kim, Ju Young Yoon, Go Hun Seo, Changwon Keum, Chong Kun Cheon Tags: Case Report Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - September 12, 2020 Category: Neurology Source Type: research

Call for abstracts for oral and poster presentations
The 63rd Annual Meeting will be held at Fukuoka International Congress Center, Fukuoka, Japan on May 27 –29, 2021 (Congress Chair: Yushiro Yamashita). All domestic and foreign colleagues, either JSCN members or non-members, interested in child neurology are encouraged to attend the meeting and are welcome to submit papers. We are especially delighted to receive abstracts from diverse countries for m utual exchanges of opinions. In English sessions and in some other symposiums, the official language will be English to promote stimulating discussions between Japanese and overseas participants. (Source: Brain and Development)
Source: Brain and Development - September 12, 2020 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - September 12, 2020 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - September 12, 2020 Category: Neurology Source Type: research

Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes
Most children with Benign epilepsy with centro-temporal spikes (BECTS) undergo remission during late adolescence and do not require treatment. In a small group of patients, the condition may evolve to encephalopathic syndromes including epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), or Landau-Kleffner Syndrome (LKS). Development of prediction models for early identification of at-risk children is of utmost importance. (Source: Brain and Development)
Source: Brain and Development - September 7, 2020 Category: Neurology Authors: Adi Porat Rein, Uri Kramer, Moran Hausman Kedem, Aviva Fattal-Valevski, Alexis Mitelpunkt Tags: Original article Source Type: research

Clinical characteristics of KCNQ2 encephalopathy
In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response. (Source: Brain and Development)
Source: Brain and Development - September 7, 2020 Category: Neurology Authors: Hyo Jeong Kim, Donghwa Yang, Se Hee Kim, Dongju Won, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang Tags: Original article Source Type: research

Predictors of malnutrition in children with neurodisabilities; Reply
As the authors pointed out, previous studies had reported that one of the important risk factors of malnutrition in children with SMID was the greater severity of the underlying neurological disability. In the present study, motor and cognitive function of enrolled patients was evaluated by the “Yokochi classification”, which is motor and cognitive classification system in Japan. Most of the patients couldn’t ambulate, that is, gross motor classification system (GMFCS) was diagnosed as IV or V and couldn’t understand the language and communicate, that is, communication function cla ssification syste...
Source: Brain and Development - September 6, 2020 Category: Neurology Authors: Mari Hasegawa, Keiji Nogami Tags: Reply Source Type: research

Dominant SCN2A mutation with variable phenotype in two generations
SCN2A mutations are some of the commonest causes of neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia. (Source: Brain and Development)
Source: Brain and Development - September 4, 2020 Category: Neurology Authors: Gouri Rao Passi, Shekeeb S. Mohammad Tags: Case Report Source Type: research

Bell ’s palsy in a pediatric patient with hyper IgM syndrome and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
We describe a medically complex 6-year-old male with hyper IgM syndrome who presented with unilateral facial droop and positive SARS-CoV-2 RT-PCR. This is the first reported pediatric case of Bell’s palsy in the se tting of SARS-CoV-2 infection. (Source: Brain and Development)
Source: Brain and Development - September 3, 2020 Category: Neurology Authors: Christos Theophanous, Jonathan Santoro, Reem Itani Tags: Case Report Source Type: research

Perampanel may be beneficial in Leigh syndrome by its anti-oxidative but not anti-epileptic effect
We have concerns regarding the article by Kimura et al. about a 26-year-old Japanese male with Leigh-syndrome (LS) due to the variant m.8993T  > C in MT-ATP6 [1]. (Source: Brain and Development)
Source: Brain and Development - September 2, 2020 Category: Neurology Authors: Josef Finsterer Tags: Letter to the Editor Source Type: research

Clinical utility of the FilmArray meningitis/encephalitis panel in children at a tertiary center in South Korea
We retrospectively evaluated the pathogens in the cerebrospinal fluid (CSF) of pediatric meningitis/encephalitis (M/E) by FilmArray meningitis/encephalitis panel (FA-MEP), and the characteristics of children showing positive and negative FA-MEP results. (Source: Brain and Development)
Source: Brain and Development - September 2, 2020 Category: Neurology Authors: Su Eun Park, Taek Jin Lim, Sang Ook Nam, Chulhun L. Chang, Shin Yun Byun, Ara Ko, JuHyun Kong, Jae Wook Cho, Gyu Min Yeon, Yun-Jin Lee Tags: Original article Source Type: research

Epilepsy in Angelman syndrome: A scoping review
Angelman Syndrome (AS) is characterized by severe developmental delays including marked speech impairment, movement abnormalities(ataxia, tremor), and unique behaviors such as frequent laughter and is caused by dysfunctional maternal UBE3A gene (maternal 15q11-13 deletions, maternal specific UBE3A mutation, uniparental disomy, and imprinting defect). Intractable epileptic seizures since early childhood with characteristic EEG abnormalities are present in 80 –90% patients with AS. Underlying pathophysiology may involve neocortical and thalamocortical hyperexcitability secondary to severe reduction of GABAergic input, ...
Source: Brain and Development - September 2, 2020 Category: Neurology Authors: Debopam Samanta Tags: Review article Source Type: research

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province
Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a complex phenotype with many variants and genotypes among different populations. Shanxi province is a high-prevalence area of PAHD in China. (Source: Brain and Development)
Source: Brain and Development - September 2, 2020 Category: Neurology Authors: Yilun Tao, Dong Han, Huiyi Shen, Xiaoze Li Tags: Original article Source Type: research

Initial treatment of seizures in children in an emergency department in rural Japan
This study examined childhood seizure treatment in a rural area in Japan. (Source: Brain and Development)
Source: Brain and Development - September 1, 2020 Category: Neurology Authors: Anna Shiraki, Masahiro Yasui, Hiroyuki Kidokoro, Shinji Kido, Hideo Ando, Yoshiyuki Takahashi, Jun Natsume Tags: Original article Source Type: research

A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation
Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis multiplex. (Source: Brain and Development)
Source: Brain and Development - August 31, 2020 Category: Neurology Authors: Yuki Ueda, Takashi Suganuma, Yoko Narumi-Kishimoto, Tadashi Kaname, Tomonobu Sato Tags: Case Report Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - August 30, 2020 Category: Neurology Source Type: research

Call for abstracts for Oral and Poster Presentations The 63rd Annual Meeting of the Japanese Society of Child Neurology JSCN 2021 “Ignite Evolution at the Dawn of a New Age”
The 63rd Annual Meeting will be held at Fukuoka International Congress Center, Fukuoka, Japan on May 27 –29, 2021 (Congress Chair: Yushiro Yamashita). All domestic and foreign colleagues, either JSCN members or non-members, interested in child neurology are encouraged to attend the meeting and are welcome to submit papers. We are especially delighted to receive abstracts from diverse countries for m utual exchanges of opinions. In English sessions and in some other symposiums, the official language will be English to promote stimulating discussions between Japanese and overseas participants. (Source: Brain and Development)
Source: Brain and Development - August 30, 2020 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - August 30, 2020 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - August 30, 2020 Category: Neurology Source Type: research

Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study
Spinal muscular atrophy (SMA) is caused by a defect in the survival motor neuron 1 (SMN1) gene. The Cooperative Study of the natural history of SMA Type I in Taiwan is a retrospective, longitudinal, observational study that helps in further understanding SMA disease progression in patients who have not received disease-modifying therapeutic interventions. (Source: Brain and Development)
Source: Brain and Development - August 29, 2020 Category: Neurology Authors: Shan-Fu Ou, Che-Sheng Ho, Wang-Tso Lee, Kuang-Lin Lin, Cynthia C. Jones, Yuh-Jyh Jong, on behalf of the SMA Study Group Tags: Original article Source Type: research

Shuffling babies and autism spectrum disorder
Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child developmental center. (Source: Brain and Development)
Source: Brain and Development - August 29, 2020 Category: Neurology Authors: Yu Okai, Tomohiko Nakata, Kiyokuni Miura, Atsuko Ohno, Rie Wakako, Osamu Takahashi, Yuki Maki, Masaharu Tanaka, Yoko Sakaguchi, Yuji Ito, Hiroyuki Yamamoto, Hiroyuki Kidokoro, Yoshiyuki Takahashi, Jun Natsume Tags: Original article Source Type: research

Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy
We examined the relationship between alterations of executive function (EF) and adaptive behavior in school children undergoing surgery for intractable epilepsy. (Source: Brain and Development)
Source: Brain and Development - August 28, 2020 Category: Neurology Authors: Riyo Ueda, Yoshimi Kaga, Yosuke Kita, Miho Tanaka, Masaki Iwasaki, Eri Takeshita, Yuko Shimizu-Motohashi, Akihiko Ishiyama, Takashi Saito, Eiji Nakagawa, Kenji Sugai, Masayuki Sasaki, Takashi Okada, Masumi Inagaki Tags: Original article Source Type: research

A rare infective cause of stroke in an immunocompetent child
Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. (Source: Brain and Development)
Source: Brain and Development - August 23, 2020 Category: Neurology Authors: Juhi Gupta, Biswaroop Chakrabarty, Gagandeep Singh, Sonali Singh, Atin Kumar, Immaculata Xess, Prashant Jauhari, Sheffali Gulati Tags: Case Report Source Type: research

Gallbladder cancer with ascites in a child with metachromatic leukodystrophy
We report what is likely the first pediatric case of MLD with gallbladder cancer. (Source: Brain and Development)
Source: Brain and Development - August 23, 2020 Category: Neurology Authors: Kiri Koshu, Takahiro Ikeda, Daisuke Tamura, Kazuhiro Muramatsu, Hitoshi Osaka, Shigeru Ono, Kaori Adachi, Eiji Nanba, Takero Nakajima, Takanori Yamagata Tags: Case Report Source Type: research

Guidelines for the diagnosis and treatment of acute encephalopathy in childhood
The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious disease, with duration and severity meeting defined criteria. Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/encephalopathy with reversible splenial lesion. Among these syndromes, there are both similarities and differences. (Source: Brain and Development)
Source: Brain and Development - August 19, 2020 Category: Neurology Authors: Masashi Mizuguchi, Takashi Ichiyama, George Imataka, Akihisa Okumura, Tomohide Goto, Hiroshi Sakuma, Jun-ichi Takanashi, Kei Murayama, Takanori Yamagata, Hideo Yamanouchi, Tokiko Fukuda, Yoshihiro Maegaki Tags: Review article Source Type: research

Obituary
We regret that Professor Paul Casaer passed away on 30 July, 2020. Professor Casaer was a giant in pediatric neurology and his contribution to the Japanese Society of Child Neurology was immense. He was an editorial/advisory board member of Brain& Development since 1990. (Source: Brain and Development)
Source: Brain and Development - August 16, 2020 Category: Neurology Authors: Paul Casaer Tags: Obituary Source Type: research

Call for abstracts for oral and poster presentations
(Source: Brain and Development)
Source: Brain and Development - August 13, 2020 Category: Neurology Source Type: research

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1
The ALDH18A1 gene is located at 10q24.1 and encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), a mitochondrial bifunctional enzyme that catalyzes the first two steps in de novo biosynthesis of proline, ornithine, citrulline, and arginine. ALDH18A1-related disorders have been classified into four groups, such as autosomal dominant and recessive hereditary spastic paraplegia (SPG9A and SPG9B, respectively), as well as autosomal dominant and recessive cutis laxa (ADCL3 and ARCL3A, respectively). (Source: Brain and Development)
Source: Brain and Development - August 10, 2020 Category: Neurology Authors: Tibor Kalm ár, Zoltán Maróti, Alíz Zimmermann, László Sztriha Tags: Case Report Source Type: research

Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a mitochondrial fatty acid oxidation disorder that causes episodic attacks, such as general fatigue, hypotonia, myalgia, and rhabdomyolysis accompanied by lack of energy. As yet, there are no preventative drugs for these VLCADD-associated metabolic attacks. (Source: Brain and Development)
Source: Brain and Development - August 10, 2020 Category: Neurology Authors: Hideaki Shiraishi, Kenji Yamada, Kiyoshi Egawa, Mika Ishige, Fumihiro Ochi, Asami Watanabe, Sanae Kawakami, Kazuyo Kuzume, Kenji Watanabe, Koji Sameshima, Kiyotaka Nakamagoe, Akira Tamaoka, Naoko Asahina, Saki Yokoshiki, Keiko Kobayashi, Takashi Miyakoshi Tags: Original article Source Type: research

Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks
Eating epilepsy was previously known as a kind of focal reflex epilepsy. However, the development of eating-induced multiple generalized seizures and the associated EEG changes were rarely reported. Herein, we present a 13-year-old generalized epilepsy patient with eating-induced generalized seizures since the age of 5. (Source: Brain and Development)
Source: Brain and Development - August 9, 2020 Category: Neurology Authors: Xiaoli Wang, Beibei Chen, Lang Jin, Wenjuan Zhang, Yonghong Liu Tags: Case Report Source Type: research

Predictors of malnutrition in children with neurodisabilities
We read with interest the article by Hasegawa et al. [1]. Authors have shown in the study that malnutrition in children with severe motor and intellectual disabilities was mainly associated with age or respiratory conditions. (Source: Brain and Development)
Source: Brain and Development - August 8, 2020 Category: Neurology Authors: Prateek Kumar Panda, Indar Kumar Sharawat Tags: Letter to the Editor Source Type: research

Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy
KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. (Source: Brain and Development)
Source: Brain and Development - August 5, 2020 Category: Neurology Authors: Luciana Midori Inuzuka, Lucia In ês Macedo-Souza, Bruno Della-Ripa, Fabiola Paoli Monteiro, Luiza Ramos, João Paulo Kitajima, Eliana Garzon, Fernando Kok Tags: Case Report Source Type: research

Administration of nusinersen via paramedian approach for spinal muscular atrophy
To assess the success rate, procedure time, and adverse events of intrathecal administration of nusinersen via the paramedian approach in adolescents and adults with spinal muscular atrophy (SMA) associated with scoliosis. (Source: Brain and Development)
Source: Brain and Development - August 5, 2020 Category: Neurology Authors: Hideyuki Iwayama, Norimitsu Wakao, Hirokazu Kurahashi, Norika Kubota, Ayako Hattori, Toshiyuki Kumagai, Akihisa Okumura Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - August 5, 2020 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - August 5, 2020 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - August 5, 2020 Category: Neurology Source Type: research

Two cases of persistent falcine and occipital sinuses
The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported. (Source: Brain and Development)
Source: Brain and Development - August 2, 2020 Category: Neurology Authors: Takehiko Inui, Moriei Shibuya, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo, Wakaba Endo, Noriko Togashi, Yoshihisa Shimanuki, Harushi Mori, Kazuhiro Haginoya Tags: Case Report Source Type: research

A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions syndrome I. This disorder is a severe autosomal recessive disease with onset in early infancy. It is characterized by disruption of the energy metabolism, resulting in weakness, neurological regression, hyperglycinemia, lactic acidosis, and early death. (Source: Brain and Development)
Source: Brain and Development - July 31, 2020 Category: Neurology Authors: Tu ğçe Aksu Uzunhan, Nafiye Emel Çakar, Serhat Seyhan, Kürşad Aydin Tags: Case Report Source Type: research