abstract：:Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...

journal_title：Brain & development

authors： Shimada S,Oguni H,Otani Y,Nishikawa A,Ito S,Eto K,Nakazawa T,Yamamoto-Shimojima K,Takanashi JI,Nagata S,Yamamoto T

更新日期：2018-10-01 00:00:00

abstract：PURPOSE:Polymicrogyria, a malformation of the cerebral cortex, frequently causes epilepsy. Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, f...

journal_title：Brain & development

authors： Baba S,Okanishi T,Nishimura M,Kanai S,Itamura S,Suzuki T,Masuda Y,Enoki H,Fujimoto A

更新日期：2018-09-01 00:00:00

abstract：OBJECTIVE:To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS:We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated ...

journal_title：Brain & development

authors： Hamano SI,Nagai T,Matsuura R,Hirata Y,Ikemoto S,Oba A,Hiwatari E

更新日期：2018-09-01 00:00:00

abstract：BACKGROUND:Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clini...

journal_title：Brain & development

authors： Kato K,Mizuno S,Inaba M,Fukumura S,Kurahashi N,Maruyama K,Ieda D,Ohashi K,Hori I,Negishi Y,Hattori A,Saitoh S

更新日期：2018-09-01 00:00:00

abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...

journal_title：Brain & development

authors： Nagashima M,Osaka H,Ikeda T,Matsumoto A,Miyauchi A,Kaneko K,Nakashima I,Nakano Y,Wakabayashi K,Monden Y,Yamagata T

更新日期：2018-08-01 00:00:00

abstract：OBJECTIVE:As a new screening tool for neuromotor development in children aged two, we developed the Neuromotor 5 min Exam 2-year-old version (N5E2), which can be easily administered by pediatricians or primary care physicians. In this study, as an initial attempt to examine the utility of the N5E2, the inter-rater reli...

journal_title：Brain & development

authors： Aoki S,Hashimoto K,Mezawa H,Hatakenaka Y,Yasumitsu-Lovell K,Suganuma N,Ohya Y,Wilson P,Fernell E,Kamio Y,Gillberg C

更新日期：2018-06-01 00:00:00

abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...

journal_title：Brain & development

authors： Ieda D,Hori I,Nakamura Y,Ohshita H,Negishi Y,Shinohara T,Hattori A,Kato T,Inukai S,Kitamura K,Kawai T,Ohara O,Kunishima S,Saitoh S

更新日期：2018-06-01 00:00:00

abstract：:Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...

journal_title：Brain & development

authors： Fong CY,Aung HWW,Khairani A,Gan CS,Shahrizaila N,Goh KJ

更新日期：2018-06-01 00:00:00

abstract：:We present a unique 11-year-old girl showing clinical features of Rett-related disorder with distinctive facial features and multiple congenital anomalies including ocular hypertelorism, arched eyebrows, a broad nose, dental anomalies, congenital heart disease, truncal obesity, and epilepsy. A novel de novo mutation i...

journal_title：Brain & development

authors： Saikusa T,Hara M,Iwama K,Yuge K,Ohba C,Okada JI,Hisano T,Yamashita Y,Okamoto N,Saitsu H,Matsumoto N,Matsuishi T

更新日期：2018-05-01 00:00:00

abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...

journal_title：Brain & development

authors： Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

更新日期：2018-03-01 00:00:00

abstract：PURPOSE:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...

journal_title：Brain & development

authors： Zhang H,Zhang W,Li Y,Yan J,Zhang J,Wang B

更新日期：2018-02-01 00:00:00

abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...

journal_title：Brain & development

authors： Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama H

更新日期：2018-02-01 00:00:00

abstract：:The autosomal recessive form of primary microcephaly (MCPH) is a rare disorder characterized by head circumference of at least 3 standard deviation below the mean. The MCPH exhibits genetic heterogeneity with thirteen loci (MCPH1-MCPH13) identified, and associated with variable degree of intellectual disability. It ha...

journal_title：Brain & development

authors： Nardello R,Fontana A,Antona V,Beninati A,Mangano GD,Stallone MC,Mangano S

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...

journal_title：Brain & development

authors： Ouyang CS,Chiang CT,Yang RC,Wu RC,Wu HC,Lin LC

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...

journal_title：Brain & development

authors： Kojima K,Shirai K,Kobayashi M,Miyauchi A,Saitsu H,Matsumoto N,Osaka H,Yamagata T

更新日期：2018-01-01 00:00:00

abstract：PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...

journal_title：Brain & development

authors： Horie M,Okamura H

更新日期：2017-11-01 00:00:00

abstract：OBJECTIVE:Cognitive impairments had been reported in childhood acute lymphoblastic leukemia, what caused the impairments needed to be demonstrated, chemotherapy-related or the disease itself. The primary aim of this exploratory investigation was to determine if there were changes in brain function of children with acut...

journal_title：Brain & development

authors： Hu Z,Zou D,Mai H,Yuan X,Wang L,Li Y,Liao J,Liu L,Liu G,Zeng H,Wen F

更新日期：2017-10-01 00:00:00

abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 00:00:00

abstract：:A 12-year-old girl presented with talipes equinus of both legs, attenuation of upper and lower limb tendon reflexes, thermal hyperalgesia, and reduction of vibratory sensation. On clinical examination, muscle twitches of fingers of both hands, as well as the abductor halluces and the dorsal interossei muscles of the r...

journal_title：Brain & development

authors： Oguri M,Saito Y,Okazaki T,Matsumura W,Ohno K,Togawa M,Fukuda C,Saito Y,Nishino I,Maegaki Y

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...

journal_title：Brain & development

authors： Hosaka H,Aoyagi K,Kaga Y,Kanemura H,Sugita K,Aihara M

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiologic...

journal_title：Brain & development

authors： Li H,Xue J,Qian P,Zhang Y,Bao X,Liu X,Yang Z

更新日期：2017-06-01 00:00:00

abstract：OBJECTIVES:Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism spectrum disorder (ASD). Serotonin plays a vital role in synaptogenesis and postnatal brain development. Deficits in serotonin synthesis and abnormal neurogenesis were sh...

journal_title：Brain & development

authors： AlOlaby RR,Sweha SR,Silva M,Durbin-Johnson B,Yrigollen CM,Pretto D,Hagerman RJ,Tassone F

更新日期：2017-06-01 00:00:00

abstract：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...

journal_title：Brain & development

authors： Ashrafi MR,Tavasoli AR

更新日期：2017-05-01 00:00:00

abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...

journal_title：Brain & development

authors： Suga K,Goji A,Inoue M,Kawahito M,Taki M,Mori K

更新日期：2017-05-01 00:00:00

abstract：:We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance im...

journal_title：Brain & development

authors： Hino-Fukuyo N,Kikuchi A,Iwasaki M,Sato Y,Kubota Y,Kobayashi T,Nakayama T,Haginoya K,Arai-Ichinoi N,Niihori T,Sato R,Suzuki T,Kudo H,Funayama R,Nakayama K,Aoki Y,Kure S

更新日期：2017-04-01 00:00:00

abstract：OBJECTIVE:Very preterm (VP) children are at risk for social difficulties, including autism spectrum disorder (ASD). This study used eye tracking to determine viewing behaviors that may reflect these difficulties. DESIGN:The gaze patterns of 47 VP (mean gestational age: 28weeks, mean birth weight: 948g, and mean chrono...

journal_title：Brain & development

authors： Sekigawa-Hosozawa M,Tanaka K,Shimizu T,Nakano T,Kitazawa S

更新日期：2017-03-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients ...

journal_title：Brain & development

authors： Sahin Y,Güngör O,Ayaz A,Güngör G,Sahin B,Yaykasli K,Ceylaner S

更新日期：2017-02-01 00:00:00

abstract：PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...

journal_title：Brain & development

authors： Kim H,Yoo IH,Lim BC,Hwang H,Chae JH,Choi J,Kim KJ

更新日期：2016-11-01 00:00:00

abstract：:Ring chromosome 20 [r(20)] syndrome is a rare chromosomal disorder that is characterized by the development of refractory epilepsy during childhood with gradual declines in cognitive performance and behavior. Although the prognoses of seizures and intellectual disability associated with this condition are poor, life-t...

journal_title：Brain & development

authors： Hirano Y,Oguni H,Nagata S

更新日期：2016-09-01 00:00:00

abstract：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...

journal_title：Brain & development

authors： Fujii T,Ito Y,Takahashi S,Shimono K,Natsume J,Yanagihara K,Oguni H

更新日期：2016-08-01 00:00:00

abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...

journal_title：Brain & development

authors： Nozaki F,Kusunoki T,Okamoto N,Yamamoto Y,Miya F,Tsunoda T,Kosaki K,Kumada T,Shibata M,Fujii T

更新日期：2016-08-01 00:00:00

abstract：BACKGROUND:Takuto Rehabilitation Center for Children is located in Sendai, the capital of the Miyagi prefecture, and faces the Pacific Ocean. The tsunami caused by the Great East Japan Earthquake resulted in tremendous damage to this region. Many physically handicapped patients with epilepsy who are treated at our hosp...

journal_title：Brain & development

authors： Kobayashi S,Endo W,Inui T,Wakusawa K,Tanaka S,Onuma A,Haginoya K

更新日期：2016-08-01 00:00:00

abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...

journal_title：Brain & development

authors： Giacobbe A,Ajmone PF,Milani D,Avignone S,Triulzi F,Gervasini C,Menni F,Monti F,Biffi D,Canavesi K,Costantino MA

更新日期：2016-06-01 00:00:00

abstract：:Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epile...

journal_title：Brain & development

authors： Kim YO,Nam TS,Park C,Kim SK,Yoon W,Choi SY,Kim MK,Woo YJ

更新日期：2016-06-01 00:00:00

abstract：INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 r...

journal_title：Brain & development

authors： Di Meglio C,Bonello-Palot N,Boulay C,Milh M,Ovaert C,Levy N,Chabrol B

更新日期：2016-05-01 00:00:00

abstract：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...

journal_title：Brain & development

authors： Kodama Y,Sameshima H,Ikenoue T

更新日期：2016-04-01 00:00:00

abstract：OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...

journal_title：Brain & development

authors： Kurahashi H,Okumura A,Kubota T,Kidokoro H,Maruyama K,Hayakawa M,Itakura A,Matsuzawa K,Yamamoto H,Kato T,Hayakawa F,Watanabe K

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Guillain Barre syndrome (GBS) commonly presents with limb weakness and occasional cranial nerve, respiratory or autonomic involvement. Isolated or predominant bilateral finger drop as presenting feature has never been reported in the pediatric age group. CASE:A 9-year-old boy presented with deformity of bot...

journal_title：Brain & development

authors： Dubey R,Kaushik JS,Israni A,Saini L,Patel H,Chakrabarty B,Gulati S

更新日期：2016-02-01 00:00:00

abstract：INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...

journal_title：Brain & development

authors： Yokochi T,Takeuchi T,Mukai J,Akita Y,Nagai K,Obu K,Kakuma T,Matsuishi T

更新日期：2016-02-01 00:00:00