Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression
In mucopolysaccharidoses (MPS), spinal cord compression (SCC) resulting from glycosaminoglycan (GAG) accumulation is a critical complication that can cause significant neurological and respiratory morbidities. However, clinically similar disorders such as mucolipidosis types II and III (ML) with SCC have been scarcely reported. Herein, we report four patients with ML who had SCC. Brain MRI revealed progressive spinal canal stenosis and SCC. In addition, T2-weighted high signal changes in the cervical cord were detected in two cases. (Source: Brain and Development)
Source: Brain and Development - May 5, 2021 Category: Neurology Authors: Sachiko Nakaoka, Hidehito Kondo, Keiko Matsuoka, Toko Shibuya, Takanobu Otomo, Yusuke Hamada, Kenichi Sakamoto, Keiichi Ozono, Norio Sakai Tags: Case Report Source Type: research

Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a hereditary disorder caused by biallelic variants in the EARS2 gene. Patients exhibit developmental delay, hypotonia, and hyperreflexia. Brain magnetic resonance imaging (MRI) reveals T2-hyperintensities in the deep white matter, thalamus, and brainstem, which generally stabilize over time. Herein, we report a case of LTBL, showing remitting and exacerbating white matter lesions. (Source: Brain and Development)
Source: Brain and Development - May 4, 2021 Category: Neurology Authors: Daisuke Sawada, Sachiko Naito, Hiromi Aoyama, Tadashi Shiohama, Tomohiko Ichikawa, Eri Imagawa, Noriko Miyake, Naomichi Matsumoto, Katsunori Fujii Tags: Case Report Source Type: research

First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature
Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. (Source: Brain and Development)
Source: Brain and Development - May 4, 2021 Category: Neurology Authors: Leman Tekin Orgun, Şeyda Besen, Özlem Sangün, Atıl Bisgin, Özlem Alkan, İlknur Erol Tags: Case Report Source Type: research

A pediatric case of transient periictal MRI abnormalities after repeated seizures
Transient periictal MRI abnormalities (TPMA) are caused by seizures, and may completely or partially reverse within a few days following seizure. Although TPMA are usually observed in patients with status epilepticus (SE), they have also been rarely reported after isolated/recurrent seizures not fulfilling the criteria for SE. Herein, we present a case of a 1-year-old girl with TPMA. (Source: Brain and Development)
Source: Brain and Development - May 3, 2021 Category: Neurology Authors: Yumeng Zhang, Fumio Ichinose, Toshiyuki Maeda, Takuji Nakamura, Muneaki Matsuo Tags: Case Report Source Type: research

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

Best Paper Awards for 2020
(Source: Brain and Development)
Source: Brain and Development - April 27, 2021 Category: Neurology Source Type: research

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

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

Phenotypes of SMA patients retaining SMN1 with intragenic mutation
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous deletion or intragenic mutation of the SMN1 gene. It is well-known that high copy number of its homologous gene, SMN2, modifies the phenotype of SMN1-deleted patients. However, in the patients with intragenic SMN1 mutation, the relationship between phenotype and SMN2 copy number remains unclear. (Source: Brain and Development)
Source: Brain and Development - April 20, 2021 Category: Neurology Authors: Yogik Onky Silvana Wijaya, Mawaddah Är Rochmah, Emma Tabe Eko Niba, Naoya Morisada, Yoriko Noguchi, Yasufumi Hidaka, Shiro Ozasa, Takeshi Inoue, Tomoyuki Shimazu, Yuya Takahashi, Takenori Tozawa, Tomohiro Chiyonobu, Takushi Inoue, Tomoyoshi Shiroshita, A Tags: Original article Source Type: research

A six-year longitudinal study of neurocognitive problems in children with epilepsy
This study describes the specific neuropsychological abnormalities among children with epilepsy (CH-E) living in Georgia. (Source: Brain and Development)
Source: Brain and Development - April 20, 2021 Category: Neurology Authors: Sofia Kasradze, Giorgi Lomidze, J. Helen Cross, David Kvernadze, Maia Alkhidze, Tamar Gagoshidze Tags: Original article Source Type: research

Early-onset autosomal dominant GTP-cyclohydrolase I deficiency: Diagnostic delay and residual motor signs
We describe the diagnostic delay and residual motor signs (RMS) observed in patients with early-onset (before 15  years of age) disease. (Source: Brain and Development)
Source: Brain and Development - April 17, 2021 Category: Neurology Authors: WooJoong Kim, Jae So Cho, Young Kyu Shim, Young Jun Ko, Sun Ah Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Man Jin Kim, Moon-Woo Seong, Jong-Hee Chae Tags: Original article Source Type: research

Morphometric analysis of spike-wave complexes (SWCs) causing myoclonic seizures in children with idiopathic myoclonic epilepsies – A positive SWC component correlates with myoclonic intensity
To elucidate the morphological characteristics of spike-wave complexes (SWCs) causing myoclonic seizures (MS) in childhood-onset idiopathic myoclonic epilepsies. (Source: Brain and Development)
Source: Brain and Development - April 17, 2021 Category: Neurology Authors: Hirokazu Oguni, Susumu Ito, Aiko Nishikawa, Yui Otani, Satoru Nagata Tags: Original article Source Type: research

Monozygotic twins with DYT-TOR1A showing jerking movements and levodopa responsiveness
DYT-TOR1A is caused by a GAG deletion in the TOR1A gene. While it usually manifests as early-onset dystonia, its phenotype is extremely diverse, even within one family. Recent reports have revealed that some DYT-TOR1A cases have novel mutations in the TOR1A gene while others have mutations in both TOR1A and another DYT gene (THAP1 or SGCE). Our understanding of the correlation between genotype and phenotype is becoming increasingly complicated.Case presentations: Here, we report on monozygotic twins who developed dystonia in childhood. (Source: Brain and Development)
Source: Brain and Development - April 5, 2021 Category: Neurology Authors: Yoshiyuki Hanaoka, Tomoyuki Akiyama, Harumi Yoshinaga, Ryousuke Miyamoto, Toshitaka Kawarai, Ryuji Kaji, Katsuhiro Kobayashi Tags: Case Report Source Type: research

SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation
SCN8A-related epilepsy has various phenotypes. In particular, patients with developmental and epileptic encephalopathy (DEE) are resistant to antiepileptic drugs and may present with autonomic symptoms, such as marked bradycardia and apnea during seizures, and thus have an increased risk of sudden death. Herein, we report a case of very severe SCN8A-related epilepsy necessitating cardiac pacemaker implantation because of repetitive ictal asystole. (Source: Brain and Development)
Source: Brain and Development - April 4, 2021 Category: Neurology Authors: Yutaka Negishi, Yusuke Aoki, Kazuya Itomi, Kazushi Yasuda, Hiroaki Taniguchi, Atsushi Ishida, Takeshi Arakawa, Sachiko Miyamoto, Mitsuko Nakashima, Hirotomo Saitsu, Shinji Saitoh Tags: Case Report Source Type: research

High-dose pyridoxine treatment for inherited glycosylphosphatidylinositol deficiency
We aimed to assess the efficacy and safety of high-dose pyridoxine treatment for seizures and its effects on development in patients with inherited glycosylphosphatidylinositol deficiencies (IGDs). (Source: Brain and Development)
Source: Brain and Development - April 3, 2021 Category: Neurology Authors: Junpei Tanigawa, Shin Nabatame, Koji Tominaga, Yoko Nishimura, Yoshihiro Maegaki, Taroh Kinosita, Yoshiko Murakami, Keiichi Ozono Source Type: research

Long-term hearing and neurodevelopmental outcomes following Kawasaki disease: A population-based cohort study
Kawasaki disease (KD) incidence is increasing in Ontario. Cardiovascular sequelae following KD are well-described. However, there are limited data on non-cardiovascular outcomes. (Source: Brain and Development)
Source: Brain and Development - April 3, 2021 Category: Neurology Authors: Cal Robinson, Francis Lao, Rahul Chanchlani, Anastasia Gayowsky, Elizabeth Darling, Michelle Batthish Tags: Original article Source Type: research

Juvenile myoclonic epilepsy: Long-term prognosis and risk factors
Our goal was to investigate the long-term clinical course of juvenile myoclonic epilepsy (JME) in a cohort of patients and to identify prognostic factors for refractoriness and seizure relapse after anti-seizure medications (ASMs) withdrawal. A literature review is also presented to consolidate and compare our findings with the previously reported cases. (Source: Brain and Development)
Source: Brain and Development - March 26, 2021 Category: Neurology Authors: Nicola Pietrafusa, Angela La Neve, Luca de Palma, Giovanni Boero, Concetta Luisi, Federico Vigevano, Nicola Specchio Tags: Original article Source Type: research

Body temperature predicts recurrent febrile seizures in the same febrile illness
This study sought to validate body temperature as a predictor of RFS, calculate the optimal cut-off body temperature for predicting RFS, and identify the other predictors of RFS. (Source: Brain and Development)
Source: Brain and Development - March 25, 2021 Category: Neurology Authors: Jun Kubota, Norimichi Higurashi, Daishi Hirano, Shiro Okabe, Kento Yamauchi, Rena Kimura, Haruka Numata, Takayuki Suzuki, Daisuke Kakegawa, Akira Ito, Shin-ichiro Hamano Tags: Original article Source Type: research

Editorial Board
(Source: Brain and Development)
Source: Brain and Development - March 23, 2021 Category: Neurology Source Type: research

Cover
(Source: Brain and Development)
Source: Brain and Development - March 23, 2021 Category: Neurology Source Type: research

Contents
(Source: Brain and Development)
Source: Brain and Development - March 23, 2021 Category: Neurology Source Type: research

Anti-GM2 antibody positive Guillain-Barr é syndrome presenting with ataxia in a pediatric patient: An atypical manifestation
Guillain-Barr é syndrome (GBS) is the most prevalent cause of acquired paralytic neuropathy in children, however, ataxia as the initial presenting sign in children is very rare. Antiganglioside antibodies are presumed to have an important role in the pathophysiology and some phenotypic correlations have been rep orted. Anti-GM2 antibody, unlike other antibodies, is far less detected in GBS. Here, we report a 7.5-year-old female, initially presenting with ataxia, an atypical presenting symptom in a child, is promptly diagnosed and treated successfully as GBS. (Source: Brain and Development)
Source: Brain and Development - March 13, 2021 Category: Neurology Authors: Elif Deliceo G öbüt, Önder Us, Uğur Işık Tags: Case Report Source Type: research

Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis
The MEHMO (mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity) syndrome, which is caused by a hemizygous variant in the EIF2S3 gene on chromosome Xp22, is associated with significant morbidity and mortality. Refractory epileptic seizures and glucose dysregulation are characteristic manifestations of the MEHMO syndrome, which can often diminish patients ’ quality of life. (Source: Brain and Development)
Source: Brain and Development - March 11, 2021 Category: Neurology Authors: Mioko Mori, Tomohiro Kumada, Kenji Inoue, Fumihito Nozaki, Katsuyuki Matsui, Yoshihiro Maruo, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Minoru Shibata Tags: Case Report Source Type: research

Reversible splenial lesions during febrile illness with or without white matter lesions
Reversible splenium lesions during febrile illness (RESLEF) are found in a spectrum. There are two types of corpus callosum (CC) lesions: CC-only type, with limited lesions and the CC (+) type, with extensive white-matter lesions. This retrospective study aimed to describe the differences in clinical findings between CC-only and CC (+) lesions and the association between onset age and clinico-radiological features in RESLEF. (Source: Brain and Development)
Source: Brain and Development - March 11, 2021 Category: Neurology Authors: Mitsuru Kashiwagi, Takuya Tanabe, Chizu Oba, Shohei Nomura, Akira Ashida Tags: Original article Source Type: research

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 in SCN3A-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

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