Epileptic facial metamorphopsia.

abstract：:Immaturity in water and electrolyte balance in the brain has been considered to increase the susceptibility of young animals and children to febrile convulsions (FCs). Arginine-vasopressin (AVP) is involved in the regulation of several centrally mediated events such as modulation of fever and the ease with which water...

journal_title：Brain & development

authors： Kiviranta T,Tuomisto L,Jolkkonen J,Airaksinen EM

更新日期：1996-03-01 00:00:00

abstract：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...

journal_title：Brain & development

authors： Ohya T,Nagai T,Araki Y,Yanagawa T,Tanabe T,Iyoda K,Kurihara M,Yamamoto K,Masunaga K,Iizuka C,Nagamitsu S,Yamashita Y,Awaya Y,Maekawa K,Matsuishi T,Research Group on Adverse Effects of Vaccination in Patients with Neurologic

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS:We studied a consangui...

journal_title：Brain & development

authors： Hashmi JA,Fadhli F,Almatrafi A,Afzal S,Ramzan K,Thiele H,Nürnberg P,Basit S

更新日期：2020-09-01 00:00:00

abstract：:A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...

journal_title：Brain & development

authors： Sugimoto T,Nishida N,Yasuhara A,Ono A,Sakane Y,Matsumura T

更新日期：1983-01-01 00:00:00

abstract：:Monitoring brain function by EEG is an important means of preventing cerebral insults in pediatric cardiovascular surgery. We studied intraoperative EEG changes and their regional differences associated with hypothermia and brain ischemia. The subjects of this study consisted of 13 children ranging in age from 4 month...

journal_title：Brain & development

authors： Akiyama T,Kobayashi K,Nakahori T,Yoshinaga H,Ogino T,Ohtsuka Y,Takeuchi M,Morita K,Sano S,Oka E

更新日期：2001-03-01 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：:In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission. I...

journal_title：Brain & development

authors： Takahashi Y,Watanabe M,Fujiwara T,Yagi K,Kondo N,Orii T,Seino M

更新日期：1997-06-01 00:00:00

abstract：:Schizencephaly is an uncommon structural disorder of cerebral cortical development, characterized by congenital clefts spanning the cerebral hemispheres from the pial surface to the lateral ventricles and lined by cortical gray matter. Either an antenatal environmental incident or a genetic origin could be responsible...

journal_title：Brain & development

authors： Denis D,Chateil JF,Brun M,Brissaud O,Lacombe D,Fontan D,Flurin V,Pedespan J

更新日期：2000-12-01 00:00:00

abstract：:Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the g...

journal_title：Brain & development

authors： Iwakawa Y,Ogiso M,Suzuki H,Kawano Y,Koyama J,Shimohira M

更新日期：1986-01-01 00:00:00

abstract：:Fluorescence in situ hybridization (FISH) of DNA-DNA or DNA-RNA using post-mortem brain samples is one approach to study low-level chromosomal aneuploidy and selective expression of specific genes in the brain of patients with neuropsychiatric diseases. We have performed a pilot molecular-cytogenetic analysis of post-...

journal_title：Brain & development

authors： Yurov YB,Vostrikov VM,Vorsanova SG,Monakhov VV,Iourov IY

更新日期：2001-12-01 00:00:00

abstract：OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...

journal_title：Brain & development

authors： Takami Y,Nakagawa T

更新日期：2019-08-01 00:00:00

abstract：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...

journal_title：Brain & development

authors： Tada H

更新日期：1983-01-01 00:00:00

abstract：:A 7-year-old boy began to complain that his pitch perception was decreased just after oral medication with carbamazepine was initiated for the treatment of epilepsy. When he played the piano, he felt as if he had played a musical note of almost a half pitch lower than he had. His pitch perception recovered soon after ...

journal_title：Brain & development

authors： Yoshikawa H,Abe T

更新日期：2003-03-01 00:00:00

abstract：:Sphingolipidoses are a subgroup of lysosomal storage diseases. They are defined as disorders caused by a genetic defect in catabolism of sphingosine-containing lipids. Catabolism of these lipids involves enzymes and activator proteins. After the discovery of lysosomes by de Duve and the demonstration of the first defe...

journal_title：Brain & development

authors： Ozkara HA

更新日期：2004-12-01 00:00:00

abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...

journal_title：Brain & development

authors： Vigevano F,Fusco L,Pachatz C

更新日期：2001-11-01 00:00:00

abstract：PURPOSE:To assess the efficacy of diazepam suppositories at preventing febrile seizure recurrence during a single febrile illness to determine how to treat children with a febrile seizure on presentation at the hospital. METHODS:We studied 203 children with febrile seizures from December 2004 through March 2006. On ad...

journal_title：Brain & development

authors： Hirabayashi Y,Okumura A,Kondo T,Magota M,Kawabe S,Kando N,Yamaguchi H,Natsume J,Negoro T,Watanabe K

更新日期：2009-06-01 00:00:00

abstract：BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...

journal_title：Brain & development

authors： Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Na

更新日期：2020-09-01 00:00:00

abstract：:The developmental changes in N-acetyl-L-aspartic acid (NAA) were assessed in human fetal and child brains by means of high resolution proton magnetic resonance spectroscopy (MRS). NAA was detected in the cerebral cortex and white matter of fetuses of 16 weeks' gestation. NAA increased gradually from 24 weeks' gestatio...

journal_title：Brain & development

authors： Kato T,Nishina M,Matsushita K,Hori E,Mito T,Takashima S

更新日期：1997-03-01 00:00:00

abstract：:A seven-year-old girl with Krabbe disease presenting palatal myoclonus only when awake is reported. The patient was diagnosed as having Krabbe disease enzymatically at the age of eleven months. She developed rhythmical contractions of the soft palate, pharynx, larynx, lips and tongue at two years. The surface electrom...

journal_title：Brain & development

authors： Yamanouchi H,Kasai H,Sakuragawa N,Kurokawa T

更新日期：1991-09-01 00:00:00

abstract：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...

journal_title：Brain & development

authors： Takahashi S,Takahashi Y,Kondo N,Orii T

更新日期：2001-07-01 00:00:00

abstract：:We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...

journal_title：Brain & development

authors： Miano S,Peraita-Adrados R,Montesano M,Castaldo R,Forlani M,Villa MP

更新日期：2011-05-01 00:00:00

abstract：:Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...

journal_title：Brain & development

authors： Ko JM,Kim WJ,Kim SY,Lee JH,Chae JH,Kim KJ,Lim BC

更新日期：2019-08-01 00:00:00

abstract：:Six females with Rett syndrome (RS)--all seriously motor disabled with clinical symptomatology indicating not only brain but also spinal cord impairment--were investigated using auditory and somatosensory evoked responses techniques. In all patients the responses representing the pathways through the upper spinal cord...

journal_title：Brain & development

authors： Badr GG,Witt-Engerström I,Hagberg B

更新日期：1987-01-01 00:00:00

abstract：:Zonisamide is widely used for intractable epilepsy and the effects of this drug on fetuses and neonates through the mother taking it for epilepsy need to be clarified. We measured the zonisamide concentration in plasma and breast milk using high-performance liquid chromatography to investigate the transfer of zonisami...

journal_title：Brain & development

authors： Kawada K,Itoh S,Kusaka T,Isobe K,Ishii M

更新日期：2002-03-01 00:00:00

abstract：:Prominent dysphagia is seen among patients with spinal muscular atrophy (SMA) type 2, especially at the late stage of their disease progression. Nasogastric tube feeding and gastrostomy are commonly utilized to maintain their nutritional status. However, choosing a treatment strategy to maintain appropriate nutritiona...

journal_title：Brain & development

authors： Suzukia Y,Sano N,Shinonaga C,Fukuda M,Hyodo M,Morimoto T

更新日期：2007-11-01 00:00:00

abstract：:This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...

journal_title：Brain & development

authors： Minami T,Ise K,Kukita J,Koyanagi T,Ueda K

更新日期：1994-01-01 00:00:00

abstract：BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...

journal_title：Brain & development

authors： Shiihara T,Watanabe M,Moriyama K,Uematsu M,Sameshima K

更新日期：2015-04-01 00:00:00

abstract：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...

journal_title：Brain & development

authors： Hanaka S,Abe T,Itakura H,Matsumoto A

更新日期：2000-08-01 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：:We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...

journal_title：Brain & development

authors： Takahashi Y,Yamazaki E,Mine J,Kubota Y,Imai K,Mogami Y,Baba K,Matsuda K,Oguni H,Sugai K,Ohtsuka Y,Fujiwara T,Inoue Y

更新日期：2013-09-01 00:00:00