Acute encephalopathy with biphasic seizures and late reduced diffusion; posterior frontal hyperperfusion before late seizures revealed by arterial spin labeling: A case report
Arterial spin labeling, a magnetic resonance imaging modality that can evaluate cerebral perfusion without using a contrast material or ionizing radiation, is becoming increasingly accessible. However, only a few reports have used this method to assess the perfusion abnormalities observed in acute encephalopathy with biphasic seizures and late reduced diffusion. (Source: Brain and Development)
Source: Brain and Development - March 2, 2021 Category: Neurology Authors: Koji Morita, Takashi Shiihara, Eriko Suzuki, Yuki Shimizu, Yuri Dowa, Mio Watanabe Tags: Case Report Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - February 27, 2021 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - February 27, 2021 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - February 27, 2021 Category: Neurology Source Type: research

A nation-wide survey of Japanese pediatric MOG antibody-associated diseases
To elucidate the clinical characteristics of Japanese pediatric patients with acquired demyelinating diseases (ADS), positive for myelin oligodendrocyte glycoprotein antibody (MOG-IgG), we conducted a nation-wide survey. (Source: Brain and Development)
Source: Brain and Development - February 17, 2021 Category: Neurology Authors: Kohji Azumagawa, Ichiro Nakashima, Kimihiko Kaneko, Hiroyuki Torisu, Yasunari Sakai, Ryutaro Kira, Hiroshi Sakuma, Keiko Tanaka, Yasushi Shigeri, Yoshie Tanaka, Hideto Nakajima, Shuichi Shimakawa, Hiroshi Tamai Tags: Original article Source Type: research

Corrigendum to “Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature” [Brain Dev. 42(2) (2020) 211–216]
The authors regret the error below: (Source: Brain and Development)
Source: Brain and Development - February 16, 2021 Category: Neurology Authors: Luciana Midori Inuzuka, Lucia In ês Macedo-Souza, Bruno Della-Ripa, Katiane S.S. Cabral, Fabiola Monteiro, João Paulo Kitajima, Luis Filipe de Souza Godoy, Daniel de Souza Delgado, Fernando Kok, Eliana Garzon Tags: Corrigendum Source Type: research

Perivascular abnormalities in pediatric encephalopathy with fulminant brain edema
Acute encephalopathy with acute brain swelling (ABS) is a recently proposed disease of unknown etiology, characterized by rapid progression to whole-brain swelling. To our knowledge, we reported the first case of a patient with acute encephalopathy with ABS wherein brain magnetic resonance imaging (MRI) abnormalities were noted prior to the diffuse brain swelling onset. (Source: Brain and Development)
Source: Brain and Development - February 14, 2021 Category: Neurology Authors: Hideshi Kawashima, Yuki Abe, Kou Matsui, Kenichi Yamada Tags: Case Report Source Type: research

Early risk factors for encephalopathic transformation in children with benign childhood epilepsy with centrotemporal spikes
We appreciate the comments by the authors of the letter to the editor entitled “Early risk factors for encephalopathic transformation in children with benign childhood epilepsy with centrotemporal spikes” [1] in regard to our study [2]. (Source: Brain and Development)
Source: Brain and Development - February 14, 2021 Category: Neurology Authors: Adi Porat Rein, Uri Kramer, Moran Hausman Kedem, Aviva Fattal-Valevski, Alexis Mitelpunkt Tags: Reply Source Type: research

Reliability and validity of the Japanese version of the Behavior Problem Inventory-Short Form
This study investigated the reliability and validity of the BPI-S Japanese version (BPI-S-J) for adolescents/adults with ID and behavior problems. (Source: Brain and Development)
Source: Brain and Development - February 12, 2021 Category: Neurology Authors: Masahiko Inoue, Naoko Inada, Yoichi Gomi, Chie Aita, Toshikazu Shiga Tags: Original article Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - February 7, 2021 Category: Neurology Source Type: research

Acknowledgements to Anonymous Reviewers in 2020
(Source: Brain and Development)
Source: Brain and Development - February 7, 2021 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - February 7, 2021 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - February 7, 2021 Category: Neurology Source Type: research

Prediction of AESD and neurological sequelae in febrile status epilepticus
The clinical prediction rule (CPR) for acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) was developed with an area under the receiver operating characteristic curve (AUC) of 0.95 – 0.96. Our objective was to verify the AESD CPR in a new cohort and compare the utilities of three CPRs of acute encephalopathy: the Tada, Yokochi, and Nagase criteria. (Source: Brain and Development)
Source: Brain and Development - February 7, 2021 Category: Neurology Authors: Masahiro Nishiyama, Yusuke Ishida, Hiroshi Yamaguchi, Shoichi Tokumoto, Kazumi Tomioka, Hiroto Hongo, Daisaku Toyoshima, Azusa Maruyama, Hiroshi Kurosawa, Ryojiro Tanaka, Kandai Nozu, Kazumoto Iijima, Hiroaki Nagase Tags: Original article Source Type: research

Fine and gross motor skills predict later psychosocial maladaptation and academic achievement
Difficulties in fine and gross motor skills are often overlooked as developmental problems, although approximately 6 –13% of all school-age children have poor motor coordination. Understanding motor coordination is important from the perspective of school adaptation. This longitudinal cohort study aimed to determine whether fine and gross motor skills in preschool children predict later academic achievement and psychosocial maladaptation. (Source: Brain and Development)
Source: Brain and Development - February 6, 2021 Category: Neurology Authors: Masatoshi Katagiri, Hiroyuki Ito, Yasuo Murayama, Megumi Hamada, Syunji Nakajima, Nobuya Takayanagi, Ai Uemiya, Mitsunori Myogan, Akio Nakai, Masatsugu Tsujii Tags: Original article Source Type: research

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency
We report an infant with SCAD deficiency who unexpectedly exhibited an extremely high blood concentration of valproic acid (VPA) and agranulocytosis. (Source: Brain and Development)
Source: Brain and Development - February 3, 2021 Category: Neurology Authors: Yuki Suzuki, Susumu Ito, Yui Otani, Aiko Nishikawa, Kaoru Eto, Keiichi Hara, Hirokazu Oguni, Satoru Nagata Tags: Case Report Source Type: research

Neurological complications after living-donor liver transplantation in children
We report the characteristics of NCs after LDLT in children. The frequency of NCs after LT was high in cases of fulminant hepatic failure and metabolic diseases, who might have had neurological symptoms or impaired consciousness before LT. (Source: Brain and Development)
Source: Brain and Development - February 2, 2021 Category: Neurology Authors: Keita Kanamori, Masaya Kubota, Seisuke Sakamoto, Akira Ishiguro, Mureo Kasahara Tags: Original article Source Type: research

Prognostic factors for relapse and outcome in pediatric acute transverse myelitis
It may be difficult for clinicians to estimate the prognosis of pediatric acute transverse myelitis (ATM). The aim of this study was to define prognostic factors for relapsing disease and poor outcome in pediatric ATM. (Source: Brain and Development)
Source: Brain and Development - January 25, 2021 Category: Neurology Authors: Jelte Helfferich, Arlette L. Bruijstens, Yu Yi M. Wong, E. Danielle van Pelt, Maartje Boon, Rinze F. Neuteboom, on behalf of the Dutch Study Group for Pediatric Multiple Sclerosis and Acute Disseminated Encephalomyelitis Tags: Original article Source Type: research

Parental germline mosaicism inSCN3A-related severe developmental disorder
We highlight the unpredictable risk of recurrence caused by parental germline mosaicism in pathogenic variants in SCN3A. We would like to provide additional data on the family of patient 1 from our article “Neurological development disorder associated with new SCN3A pathogenic variants: two new cases and literature review” published in 2019 in Brain of Development [1]. (Source: Brain and Development)
Source: Brain and Development - January 22, 2021 Category: Neurology Authors: Luciana Midori Inuzuka, Lucia In ês Macedo-Souza, Matheus Guerra-Peixe, Christiane Cobas Pedreira, Bruno Della-Ripa, Daniel Souza Delgado, Fabiola Monteiro, João Paulo Kitajima, Eliana Garzon, Fernando Kok Tags: Letter to the Editor Source Type: research

Electroencephalographic findings and genetic characterization of two brothers with IQSEC2 pathogenic variant
Two brothers with an IQSEC2 pathogenic variant presented with early onset intellectual disability, intractable epileptic seizures, autism spectrum disorders, postnatal microcephalus and slowly progressive rigid-spasticity. Their epileptic seizures were characterized by intractability, early onset epileptic spasms, and then clusters of tonic/tonic-clonic seizures, exacerbated by valproate. Electroencephalography showed periodic discharges, including periodic high voltage slow complexes and burst-suppression activity. (Source: Brain and Development)
Source: Brain and Development - January 22, 2021 Category: Neurology Authors: Tatsuro Izumi, Yu Aihara, Atsuo Kikuchi, Shigeo Kure Tags: Case Report Source Type: research

Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis
Pathogenic variants in the dynamin 1 like gene are related to abnormal mitochondrial dynamics and distributions and are associated to variable clinical phenotypes. A few patients harboring the p.Arg403Cys missense variant appears to be different from the classical, more severe phenotypes, showing sudden onset of drug resistant seizures after a previously normal or slightly delayed development. (Source: Brain and Development)
Source: Brain and Development - January 21, 2021 Category: Neurology Authors: Maria Margherita Mancardi, Claudia Nesti, Francesca Febbo, Ramona Cordani, Laura Siri, Lino Nobili, Elisabetta Lampugnani, Thea Giacomini, Tiziana Granata, Gianluca Marucci, Alessandro Consales, Andrea Rossi, Gianvittorio Luria, Filippo Maria Santorelli, Tags: Case Report Source Type: research

A case of infantile Tay-Sachs disease with late onset spasms
Epilepsy is known to be associated with Tay-Sachs disease (TSD); however, no detailed reports are available. This case report aimed to present the clinical features of late onset spasms (LOS) in a patient with infantile TSD, and to elucidate the pathophysiology leading to LOS, using proton magnetic resonance spectroscopy (MRS). (Source: Brain and Development)
Source: Brain and Development - January 19, 2021 Category: Neurology Authors: Naohiro Yamamoto, Ichiro Kuki, Shizuka Nagase, Takeshi Inoue, Megumi Nukui, Shin Okazaki, Yasuko Furuichi, Kaori Adachi, Eiji Nanba, Norio Sakai, Hisashi Kawawaki Tags: Case Report Source Type: research

Multicenter prospective longitudinal study in 34 patients with Dravet syndrome: Neuropsychological development in the first six years of life
The objective of this study was to identify developmental trajectories of developmental/behavioral phenotypes and possibly their relationship to epilepsy and genotype by analyzing developmental and behavioral features collected prospectively and longitudinally in a cohort of patients with Dravet syndrome (DS).Thirty-four patients from seven Italian tertiary pediatric neurology centers were enrolled in the study. All patients were examined for the SCN1A gene mutation and prospectively assessed from the first years of life with repeated full clinical observations including neurological and developmental examinations. (Source...
Source: Brain and Development - January 18, 2021 Category: Neurology Authors: Domenica Battaglia, Daniela Chieffo, Simona Lucibello, Carla Marini, Valentina Sibilia, Davide Mei, Francesca Darra, Francesca Offredi, Elena Fontana, Nicola Specchio, Simona Cappelletti, Tiziana Granata, Francesca Ragona, Mara Patrini, Maria G. Baglietto Tags: Original article Source Type: research

Low-dose phenobarbital for epilepsy with myoclonic absences: A case report
Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phenobarbital unexpectedly achieved complete remission of epilepsy. (Source: Brain and Development)
Source: Brain and Development - January 16, 2021 Category: Neurology Authors: Susumu Ito, Kaoruko Nagumo, Aiko Nishikawa, Hirokazu Oguni, Satoru Nagata Tags: Case Report Source Type: research

Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia
Rapid-onset dystonia –parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. (Source: Brain and Development)
Source: Brain and Development - January 12, 2021 Category: Neurology Authors: Shohei Nomura, Mitsuru Kashiwagi, Takuya Tanabe, Chizu Oba, Kumiko Yanagi, Tadashi Kaname, Nobuhiko Okamoto, Akira Ashida Tags: Case Report Source Type: research

Neuroplasticity during the transition period: How the adolescent brain can recover from aphasia. A pilot study
Increasing clinical and scientific attention is given to the transition of neurological stages from child to adult. Data on brain plasticity during adolescence is interesting for providing adequate evidence-based medical attention to neurological conditions in this population. Acquired aphasia is well described in adults and children, but not in adolescence. (Source: Brain and Development)
Source: Brain and Development - January 12, 2021 Category: Neurology Authors: Maite G árriz-Luis, Juan Narbona, Rocío Sánchez-Carpintero, María A. Pastor, María A. Fernández-Seara, Nerea Crespo-Eguilaz Tags: Case Report Source Type: research

Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants
This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. (Source: Brain and Development)
Source: Brain and Development - January 9, 2021 Category: Neurology Authors: Yu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, Tomohide Goto, Kazuhiro Haginoya, Takeshi Inoue, Masaya Kubota, Hiroshi Fujita, Ryoko Honda, Masahiro Ito, Kanako Kishimoto, Kazuyuki Nakamura, Yasunari Sakai, Jun-ichi Takanashi, Manabu Tanaka, Koichi Tanda Tags: Original article Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - January 8, 2021 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - January 8, 2021 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - January 8, 2021 Category: Neurology Source Type: research

HPeV3-associated acute encephalitis/encephalopathy among Japanese infants
The current study aimed to identify and compare the clinical characteristics of human parechovirus type 3 (HPeV3)-associated acute encephalitis/encephalopathy (HPeV3E/E) between infants with abnormal brain magnetic resonance imaging (MRI) findings (typical, or MRI-positive HPeV3E/E) and those with MRI-negative findings (MRI-negative HPeV3E/E). (Source: Brain and Development)
Source: Brain and Development - January 7, 2021 Category: Neurology Authors: Yuichi Abe, Takuro Ohno, Hiroshi Matsumoto, Yusuke Daimon, Hirokazu Kurahashi, Rumiko Takayama, Yuri Sakaguchi, Saori Tanabe, Fumiko Tanaka, Yusaku Miyamoto, Akiko Kawano, Hideo Yamanouchi Tags: Original article Source Type: research

Variance in the pathophysiological impact of the hemizygosity of gamma-aminobutyric acid type A receptor subunit genes between Prader-Willi syndrome and Angelman syndrome
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are neurodevelopmental disorders caused by loss of function of maternally expressed UBE3A and paternally expressed contiguous genes on chromosome 15q11-13, respectively. A majority of these syndromes suffer from a large deletion of the relevant chromosome (AS Del or PWS Del), which includes biallelically expressed gamma-aminobutyric acid type A receptor subunit (GABAaR) genes, while remaining individuals present without the deletion (AS non-Del or PWS non-Del). (Source: Brain and Development)
Source: Brain and Development - January 5, 2021 Category: Neurology Authors: Kiyoshi Egawa, Shinji Saitoh, Naoko Asahina, Hideaki Shiraishi Tags: Original article Source Type: research

Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti
Incontinentia pigmenti (IP) is an X-linked neurocutaneous disorder that can present with cerebral arteriopathy during early infancy. However, no previous reports have demonstrated arteriopathic manifestations during postinfantile childhood in patients with IP. (Source: Brain and Development)
Source: Brain and Development - January 5, 2021 Category: Neurology Authors: Sotaro Kanai, Tohru Okanishi, Miki Kawai, Go Yoshino, Yoshiko Tsubouchi, Yoko Nishimura, Hiroshi Sakuma, Hiroki Kurahashi, Yoshihiro Maegaki Tags: Case Report Source Type: research

Thyroid crisis mimicking clinically mild encephalitis/encephalopathy with a reversible splenial lesion: A pediatric case report
We report a pediatric patient in thyroid crisis with reversible SCC lesions. (Source: Brain and Development)
Source: Brain and Development - January 4, 2021 Category: Neurology Authors: Kohei Matsubara, Ichiro Kuki, Naohiro Yamamoto, Shizuka Nagase, Takeshi Inoue, Megumi Nukui, Shin Okazaki, Yuki Yamada, Hisashi Kawawaki Tags: Case Report Source Type: research

Flurothyl-induced seizure paradigm revealed higher seizure susceptibility in middle-aged Angelman syndrome mouse model
Epilepsy is one of the main clinical problems in Angelman syndrome (AS). Seizures typically start in early childhood then decrease or are often alleviated by young adulthood. Several studies using AS model mice showed comparable seizure susceptibility during young adulthood. In contrast, the course of epilepsy post young adulthood differs from persistently relieved to rerising among reports. To elucidate this, we evaluated the seizure susceptibility of AS model mice of two different ages. (Source: Brain and Development)
Source: Brain and Development - January 4, 2021 Category: Neurology Authors: Kiyoshi Egawa, Sachiko Nakakubo, Shuhei Kimura, Takeru Goto, Atsushi Manabe, Hideaki Shiraishi Tags: Original article Source Type: research

Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant
Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex that catalyzes the ligation of amino acids to their correct tRNAs. Bi-allelic truncating variants in the AIMP1 gene have been associated with hypomyelinating leukodystrophy-3 (HLD3; MIM 260600), which is characterized by hypomyelination, microcephaly, seizures and decreased life expectancy. Although peripheral nerve involvement has been assumed for HLD3, no compelling evidence is available to date. (Source: Brain and Development)
Source: Brain and Development - January 2, 2021 Category: Neurology Authors: Ikumi Hori, Daisuke Ieda, Shogo Ito, Seimi Ebe, Yuji Nakamura, Kei Ohashi, Kohei Aoyama, Ayako Hattori, Minoru Kokubo, Shinji Saitoh Tags: Case Report Source Type: research

A de novo CHD3 variant in a child with intellectual disability, autism, joint laxity, and dysmorphisms
Chromodomain helicase DNA-binding (CHD) proteins play important roles in developmental processes. CHD3, a member of the CHD family of proteins, was reported to be a cause of a neurodevelopmental syndrome by Snijders Blok et al., but only a small number of probands have been reported. (Source: Brain and Development)
Source: Brain and Development - December 24, 2020 Category: Neurology Authors: Miyako Mizukami, Aki Ishikawa, Sachiko Miyazaki, Akiko Tsuzuki, Sakae Saito, Tetsuya Niihori, Akihiro Sakurai Tags: Case Report Source Type: research

Status dystonicus associated with CLN8 disease
Status dystonicus is an underdiagnosed condition, probably due to heterogeneous etiology, presentation and course. Herein, we report the first case of CLN8 disease in the literature presenting with status dystonicus who responded well to pharmacological intervention. (Source: Brain and Development)
Source: Brain and Development - December 24, 2020 Category: Neurology Authors: Mira ç Yıldırım, Engin Köse, Avni Merter Keçeli, Özgür Balasar, Nazmi Şimşek Tags: Case Report Source Type: research

GNAO1 mutation-related severe involuntary movements treated with gabapentin
Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators. (Source: Brain and Development)
Source: Brain and Development - December 22, 2020 Category: Neurology Authors: Manami Akasaka, Atsushi Kamei, Sachiko Tanifuji, Maya Asami, Jun Ito, Kanako Mizuma, Kotaro Oyama, Tomoharu Tokutomi, Kayono Yamamoto, Akimune Fukushima, Toshiki Takenouchi, Tomoko Uehara, Hisato Suzuki, Kenjiro Kosaki Tags: Case Report Source Type: research

Malaysian outcome of acute necrotising encephalopathy of childhood
Acute necrotizing encephalopathy (ANE) is a rare and often a devasting form of acute encephalopathy among children [1]. ANE was first proposed by Mizuguchi et al and was considered to be a parainfectious disease that is triggered mainly by viral infections [2]. Whilst the underlying etiology and disease pathogenesis remain mostly unknown, studies have highlighted that proinflammatory cytokines and soluble cytokine receptors causing a ‘cytokine storm’ plays an important role in the pathogenesis of this disease [3]. (Source: Brain and Development)
Source: Brain and Development - December 21, 2020 Category: Neurology Authors: Choong Yi Fong, Mon Thandar Saw, Limin Li, Wei Kang Lim, Lai Choo Ong, Chin Seng Gan Tags: Original article Source Type: research

Predictors of ADHD persistence in elementary school children who were assessed in earlier grades: A prospective cohort study from Istanbul, Turkey
Attention-deficit hyperactivity disorder (ADHD) is the most common neurodevelopmental disorders among school-age children worldwide. In a more recent follow-up study, Biederman et al. found that 78% of children diagnosed with ADHD between the ages of 6 –17 years continued to have a full (35%) or a partial persistence after eleven years. (Source: Brain and Development)
Source: Brain and Development - December 19, 2020 Category: Neurology Authors: Sebla G ökçe, Yankı Yazgan, Herdem Aslan Genç, Gresa Çarkaxhiu Bulut, Esengül Kayan, Onur Tuğçe Poyraz Fındık, Ayşe Burcu Ayaz, Canan Yusufoğlu, Didem Ayyıldız, Burcu Budak, Ender Atabay, Sultan Seval Yılmaz, Umut Kaytanlı, Elif Akın Tags: Original article Source Type: research

Early non-convulsive seizures are associated with the development of acute encephalopathy with biphasic seizures and late reduced diffusion
Children with either febrile seizure or acute encephalopathy exhibit seizures and/or impaired consciousness accompanied by fever of unknown etiology (SICF). Among children with SICF, we previously reported those who have refractory status epilepticus or prolonged neurological abnormalities with normal AST levels are at a high risk for the development of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), considered to be caused by excitotoxicity. Non-convulsive seizures (NCS) are common in critically ill children and cause excitotoxic neuronal injury. (Source: Brain and Development)
Source: Brain and Development - December 17, 2020 Category: Neurology Authors: Azusa Maruyama, Shoichi Tokumoto, Hiroshi Yamaguchi, Yusuke Ishida, Tsukasa Tanaka, Kazumi Tomioka, Masahiro Nishiyama, Kyoko Fujita, Daisaku Toyoshima, Hiroaki Nagase Tags: Original article Source Type: research

Refractory cerebral infarction in a child with an ACTA2 mutation
Cerebral infarctions in patients with a specific ACTA2 mutation can occur even in early childhood, recur frequently, and cause severe motor and cognitive impairment. Physicians should be highly aware of this disease and be ready to provide the medical and surgical interventions necessary to minimize the disabling sequelae. (Source: Brain and Development)
Source: Brain and Development - December 17, 2020 Category: Neurology Authors: Keita Kanamori, Yuri Sakaguchi, Kyoji Tsuda, Satoshi Ihara, Sahoko Miyama Tags: Case Report Source Type: research

Reply to the letter: “Perampanel may be beneficial in leigh syndrome by its anti-oxidative but not anti-epileptic effect”
We appreciate the comments of Josef Finsterer on our article. We agree that some aspects of the recovery of activities of daily living (ADLs) with perampanel (PER) in this case cannot be explained by antiepileptic effects alone. A decrease in ADLs when energy demand is increased in Leigh syndrome (LS) is well known and would be expected to exacerbate the pathogenesis of LS itself, triggered by infection. There is a good possibility that the dystonia and tonicity of his extremities that appeared during this period were caused by involuntary movements of the limbs. (Source: Brain and Development)
Source: Brain and Development - December 12, 2020 Category: Neurology Authors: Shuhei Kimura, Hideaki Shiraishi, Kiyoshi Egawa, Masaya Uchida, Michihiko Ueno Tags: Reply Source Type: research

Clinical evaluation of childhood cerebral adrenoleukodystrophy with balint ’s symptoms
Childhood cerebral adrenoleukodystrophy (CCALD) is the most common phenotype of adrenoleukodystrophy (ALD) and is characterized by the progression of intellectual, psychic, visual, and gait disturbances. Progression of this intractable disease can only be prevented by hematopoietic stem cell transplantation during the early stages of the disease. The aim of this study was to clinically evaluate children with CCALD who have visual symptoms to enable early diagnosis. (Source: Brain and Development)
Source: Brain and Development - December 10, 2020 Category: Neurology Authors: Kazuo Kubota, Hiroki Kawai, Shigeo Takashima, Takayoshi Shimohata, Mika Otsuki, Hidenori Ohnishi, Nobuyuki Shimozawa Tags: Original article Source Type: research

International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country
This study aimed to examine adaptive functioning of children with OAs ba sed on ICF. (Source: Brain and Development)
Source: Brain and Development - December 10, 2020 Category: Neurology Authors: Ezgi Özalp Akin, Bahar Bingoler Pekcici, Fatma Tuba Eminoglu Tags: Original article Source Type: research

Infection-associated decrease of serum creatine kinase levels in Fukuyama congenital muscular dystrophy
Marked decreases in serum creatine kinase levels have been noted in Duchenne and Becker muscular dystrophies as rare complications of autoimmune or autoinflammatory diseases. (Source: Brain and Development)
Source: Brain and Development - December 2, 2020 Category: Neurology Authors: Saoko Takeshita, Yoshiaki Saito, Yoshitaka Oyama, Yoshihiro Watanabe, Azusa Ikeda, Mizue Iai, Takatoshi Sato, Keiko Ishigaki, Shu-ichi Ito Tags: Original article Source Type: research

A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
Spinocerebellar ataxia, autosomal recessive 2 (SCAR2) [MIM:213200] is a rare autosomal recessive disease of spinocerebellar ataxia associated with degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR2 is characterized by onset of impaired motor development and ataxic gait in early childhood. Recently, several PMPCA gene variants have been reported in SCAR2 patients with mild and non-progressive symptoms. PMPCA codes frataxin, which is crucial for iron biosynthesis in cells. (Source: Brain and Development)
Source: Brain and Development - December 1, 2020 Category: Neurology Authors: Yoko Takahashi, Masaya Kubota, Rika Kosaki, Kenjiro Kosaki, Akira Ishiguro Tags: Case Report Source Type: research

Proteomic analysis reveals plasma haptoglobin, interferon- γ, and interleukin-1β as potential biomarkers of pediatric refractory epilepsy
Children with refractory epilepsy (RE) are associated with increased mortality rate, nonfatal injuries, disability, and diminished quality of life. Biomarkers for the early prediction of RE is still an unmet need. (Source: Brain and Development)
Source: Brain and Development - November 30, 2020 Category: Neurology Authors: Vitchayaporn Emarach Saengow, Wararat Chiangjong, Chaiyos Khongkhatithum, Channarong Changtong, Daranee Chokchaichamnankit, Churat Weeraphan, Patcharin Kaewboonruang, Lunliya Thampratankul, Wiparat Manuyakorn, Suradej Hongeng, Chantragan Srisomsap, Jisnus Tags: Original article Source Type: research

Clinical experience on the use of perampanel in epilepsy among child neurologists in the Philippines
Perampanel is the latest anti-seizure medication introduced in the Philippines in 2015. This was initially approved as an adjunctive treatment for focal seizures and those with secondary generalization among individuals 12  years old and above. By March 2020, it has been approved also for generalized seizures and in children 4 years and above. The general objective of this research is to describe the clinical experience of Filipino child neurologists on the use of perampanel in children. (Source: Brain and Development)
Source: Brain and Development - November 30, 2020 Category: Neurology Authors: Bernadette Macrohon, Jo Janette Resurreccion-De La Calzada, Benilda Sanchez-Gan Tags: Original article Source Type: research