Hydranencephaly in twins.

abstract：:Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...

journal_title：Brain & development

authors： Suzuki Y

更新日期：2011-10-01 00:00:00

abstract：:The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...

journal_title：Brain & development

authors： Per H,Gümüş H,Ichida K,Cağlayan O,Kumandaş S

更新日期：2007-07-01 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：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...

journal_title：Brain & development

authors： Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

更新日期：2013-05-01 00:00:00

abstract：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...

journal_title：Brain & development

authors： Yang H,Kobayashi K,Wang S,Jiao H,Xiao J,Toda T,Wu X,Xiong H

更新日期：2015-10-01 00:00:00

abstract：:The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...

journal_title：Brain & development

authors： Cohen ME,Duffner PK

更新日期：1989-01-01 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：:Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...

journal_title：Brain & development

authors： Ambrosetto G,Giovanardi Rossi P,Tassinari CA

更新日期：1987-01-01 00:00:00

abstract：:Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, ...

journal_title：Brain & development

authors： Sunaga Y,Ohtsuka T,Nagashima K,Kuroume T

更新日期：1993-03-01 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：: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：: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：BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...

journal_title：Brain & development

authors： Tang LO,Hou BH,Zhang XN,Xi ZY,Li CX,Xu L

更新日期：2021-02-01 00:00:00

abstract：:Severe myoclonic epilepsy in infancy (SMEI) is an age-dependent epileptic encephalopathy occurring in the first year of life and is one of the intractable epilepsies. Heterozygous mutations in the voltage-gated sodium channel alpha subunit type1 gene (SCN1A) are frequently identified in patients with SMEI; two-thirds ...

journal_title：Brain & development

authors： Kimura K,Sugawara T,Mazaki-Miyazaki E,Hoshino K,Nomura Y,Tateno A,Hachimori K,Yamakawa K,Segawa M

更新日期：2005-09-01 00:00:00

abstract：:Congenital muscular dystrophy (CMD) is a heterogenous group of disorders. In the majority of cases the intelligence is preserved, which comprises the classic "occidental" (type 1) form. This type appears to be prevalent in the west. We report a five-case series in Turkey, confirming its geographical distribution. ...

journal_title：Brain & development

authors： Topaloğlu H,Yalaz K,Renda Y,Kale G,Cağlar M,Göğüş S

更新日期：1989-01-01 00:00:00

abstract：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...

journal_title：Brain & development

authors： Endoh F,Yoshinaga H,Kobayashi K,Ohtsuka Y

更新日期：2007-11-01 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：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...

journal_title：Brain & development

authors： Tsuchiya S

更新日期：1981-01-01 00:00:00

abstract：BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...

journal_title：Brain & development

authors： Nomura S,Kashiwagi M,Tanabe T,Oba C,Yanagi K,Kaname T,Okamoto N,Ashida A

更新日期：2021-01-12 00:00:00

abstract：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...

journal_title：Brain & development

authors： Ferlini A,Ansaloni L,Nobile C,Forabosco A

更新日期：1990-01-01 00:00:00

abstract：:Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within...

journal_title：Brain & development

authors： Hori A,Peiffer J,Pfeiffer RA,Iizuka R

更新日期：1980-01-01 00:00:00

abstract：:A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any a...

journal_title：Brain & development

authors： Go T

更新日期：2002-06-01 00:00:00

abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...

journal_title：Brain & development

authors： Abdel-Salam GM,Shehab M,Zaki MS

更新日期：2006-09-01 00:00:00

abstract：:Ten girls affected by the Rett syndrome (RS) were treated with bromocriptine in a double blind trial. Two girls showed considerable improvements in gross and fine motor development, in cognitive and social activities, and in their autonomy after four months of treatment. Minimal improvements were seen in one girl, but...

journal_title：Brain & development

authors： Zappella M

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...

journal_title：Brain & development

authors： Kitai Y,Hirai S,Okuyama N,Hirotsune M,Nishimoto S,Mizutani S,Okumura A,Kumada S,Arai H

更新日期：2020-04-01 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：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...

journal_title：Brain & development

authors： Futagi Y,Otani K,Goto M

更新日期：1997-01-01 00:00:00

abstract：:We characterized the neuropsychological status of children with newly diagnosed idiopathic childhood epilepsy and measured differences in IQ between children with different types of epilepsy. The Korean Education Development Institute-Wechsler Intelligence Scale for Children (KEDI-WISC) was administered to 72 patients...

journal_title：Brain & development

authors： Jeong MH,Yum MS,Ko TS,You SJ,Lee EH,Yoo HK

更新日期：2011-09-01 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：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....

journal_title：Brain & development

authors： Hayashi T,Ichiyama T,Kobayashi K

更新日期：1989-01-01 00:00:00