MicroRNA-31 regulating apoptosis by mediating the phosphatidylinositol-3 kinase/protein kinase B signaling pathway in treatment of spinal cord injury.

abstract：:Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...

journal_title：Brain & development

authors： Shi X,Yasumoto S,Nakagawa E,Fukasawa T,Uchiya S,Hirose S

更新日期：2009-11-01 00:00:00

abstract：:The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...

journal_title：Brain & development

authors： Nishioka J,Akita Y,Yatsuga S,Katayama K,Matsuishi T,Ishibashi M,Koga Y

更新日期：2008-02-01 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：AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...

journal_title：Brain & development

authors： Yamamoto A,Saito Y,Oyama Y,Watanabe Y,Ikeda A,Takayama R,Ikeda H,Takeshita S,Takumi I,Itai T,Miyatake S,Matsumoto N

更新日期：2020-09-01 00:00:00

abstract：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...

journal_title：Brain & development

authors： Wo SB,Lee JH,Lee YJ,Sung TJ,Lee KH,Kim SK

更新日期：2013-04-01 00:00:00

abstract：:We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...

journal_title：Brain & development

authors： Tohda C,Nakanishi R,Kadowaki M

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND AND PURPOSE: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 d...

journal_title：Brain & development

authors： Okai Y,Nakata T,Miura K,Ohno A,Wakako R,Takahashi O,Maki Y,Tanaka M,Sakaguchi Y,Ito Y,Yamamoto H,Kidokoro H,Takahashi Y,Natsume J

更新日期：2021-02-01 00:00:00

abstract：:Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...

journal_title：Brain & development

authors： Tsuchiya H,Akiyama T,Kuhara T,Nakajima Y,Ohse M,Kurahashi H,Kato T,Maeda Y,Yoshinaga H,Kobayashi K

更新日期：2019-03-01 00:00:00

abstract：:A research committee supported by the Japanese government conducted a nationwide survey on the epidemiology of acute encephalopathy in Japan using a questionnaire. A total of 983 cases reportedly had acute encephalopathy during the past 3 years, 2007-2010. Among the pathogens of the preceding infection, influenza viru...

journal_title：Brain & development

authors： Hoshino A,Saitoh M,Oka A,Okumura A,Kubota M,Saito Y,Takanashi J,Hirose S,Yamagata T,Yamanouchi H,Mizuguchi M

更新日期：2012-05-01 00:00:00

abstract：:Coeliac disease, epilepsy and cerebral calcifications (CEC) syndrome is a rare clinical condition. One hundred and seventy-one patients have been reported in the literature. Patients are mostly from Italy, Spain, and Argentina, suggesting a geographically restricted condition. Epilepsy is more frequently characterized...

journal_title：Brain & development

authors： Gobbi G

更新日期：2005-04-01 00:00:00

abstract：OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...

journal_title：Brain & development

authors： Ohta M,Kano Y

更新日期：2003-12-01 00:00:00

abstract：:Continuous and simultaneous registration of electroencephalogram (EEG) and heart rate (HR) pattern in preterm infants can give information about the functioning of central nervous system and the integrity of the autonomic nervous system. The developmental and behavioural state determine the pattern of EEG activity. A ...

journal_title：Brain & development

authors： Pfurtscheller K,Müller-Putz GR,Urlesberger B,Dax J,Müller W,Pfurtscheller G

更新日期：2005-12-01 00:00:00

abstract：:In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...

journal_title：Brain & development

authors： Mouridsen SE

更新日期：2003-06-01 00:00:00

abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...

journal_title：Brain & development

authors： Curatolo P,Lo-Castro A,Pinci M,Moavero R,Bombardieri R

更新日期：2009-05-01 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：:The stereotyped movement of hands, one of the core symptoms of the Rett syndrome (RS), was analyzed to study the pathophysiology. The development of hand function was delayed after mid-infancy and handedness was undetermined in most cases. Before the onset of the pathognomonic stereotypy, patients showed excessive or ...

journal_title：Brain & development

authors： Nomura Y,Segawa M

更新日期：1990-01-01 00:00:00

abstract：:A case of precocious puberty due to postmeningitic hydrocephalus was presented. Concentrations of serum gonadotropins and estradiol were found to be elevated, and the response of LH to LHRH was also high, similar to that in the late pubertal stage. CT scanning demonstrated marked dilatation of the third ventricle. It ...

journal_title：Brain & development

authors： Tomono Y,Maki Y,Ito M,Nakada Y

更新日期：1983-01-01 00:00:00

abstract：PURPOSE:The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome. SUBJECTS:The subjects includ...

journal_title：Brain & development

authors： Oguni H,Fukuyama Y,Tanaka T,Hayashi K,Funatsuka M,Sakauchi M,Shirakawa S,Osawa M

更新日期：2001-11-01 00:00:00

abstract：BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...

journal_title：Brain & development

authors： Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

更新日期：2019-11-01 00:00:00

abstract：:Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...

journal_title：Brain & development

authors： Sakuragawa N

更新日期：1992-09-01 00:00:00

abstract：:As a treatable cause of CNS dysfunctions in the fetal alcohol syndrome (FAS), low-zinc-status in addition to hypoglycemia has been investigated in experimental rat models. During the premating period female rats of an ethanol group and a control group received 30% ethanol (E) and water (W), respectively. During pregna...

journal_title：Brain & development

authors： Tanaka H,Nakazawa K,Suzuki N,Arima M

更新日期：1982-01-01 00:00:00

abstract：:We encountered a 10-year-old girl with fluctuating sensorineural hearing loss, episodic headache, and white matter stroke. Strenuous exercise, febrile illness, and general anesthesia all temporarily worsened hearing. Audiologic findings were asymmetric: left-sided retrocochlear dysfunction consistent with auditory neu...

journal_title：Brain & development

authors： Nobutoki T,Sasaki M,Fukumizu M,Hanaoka S,Sugai K,Anzai Y,Kaga M

更新日期：2006-01-01 00:00:00

abstract：:Different phases of brain growth precede maturation as indicated in the developmental course of brain electrical activity. This can be illustrated by EEG and evoked potentials recorded from the scalp from a postmenstrual age of 24 weeks. A description of electrical patterns according to postmenstrual age is valid beca...

journal_title：Brain & development

authors： Eeg-Olofsson O

更新日期：1980-01-01 00:00:00

abstract：:A 2-yr-3-mo-old girl with metachromatic leukodystrophy (MLD) was examined using serial multiple electrophysiological procedures. Sensory nerve conduction velocity was delayed earlier and more severely than motor nerve conduction velocity. Visual evoked potentials (VEPs) showed prolonged latency of wave IV. Auditory br...

journal_title：Brain & development

authors： Takakura H,Nakano C,Kasagi S,Takashima S,Takeshita K

更新日期：1985-01-01 00:00:00

abstract：:A 9-year-old female MELAS patient with myoclonus is reported, with emphasis on the results of electrophysiological studies of the myoclonus. At age 5 years she experienced a stroke-like episode, and a diagnosis of MELAS was made at age 6 years on the basis of muscle biopsy findings. At age 9 years spontaneous and segm...

journal_title：Brain & development

authors： Saitoh S,Kohsaka S,Mizukami S,Kajii N

更新日期：1992-07-01 00:00:00

abstract：:A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...

journal_title：Brain & development

authors： Yoshioka M,Kuroki S,Nigami H,Kawai T,Nakamura H

更新日期：1992-09-01 00:00:00

abstract：:Cat scratch disease (CSD) is a zoonotic illness caused by the Gram negative bacillus Bartonella henselae characterized by a small skin lesion at the site of a bite, lick or scratch by a cat, commonly followed by regional lymphadenopathy 1 or 2 weeks later. We report herein on severe neurological complications of CSD c...

journal_title：Brain & development

authors： Genizi J,Kasis I,Schif A,Shahar E

更新日期：2007-07-01 00:00:00

abstract：BACKGROUND: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 phen...

journal_title：Brain & development

authors： Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

更新日期：2021-01-15 00:00:00

abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...

journal_title：Brain & development

authors： Gücüyener K,Pinarli FG,Erbaş D,Hasanoğlu A,Serdaroğlu A,Topaloğlu H

更新日期：2010-02-01 00:00:00

abstract：:Two cases of convulsive syncope following the insertion of sphenoidal electrodes are reported. The episodes occurred shortly after an uneventful insertion of the needle. Both patients exhibited behavioral arrest with loss of muscle tone, followed by flexor posturing, jerking of the extremities, then followed by what a...

journal_title：Brain & development

authors： DeToledo JC

更新日期：1999-04-01 00:00:00