A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

abstract：BACKGROUND:The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is ...

journal_title：Brain & development

authors： Akiyama T,Toda S,Kimura N,Mogami Y,Hanaoka Y,Tokorodani C,Ito T,Miyahara H,Hyodo Y,Kobayashi K

更新日期：2020-05-01 00:00:00

abstract：:The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...

journal_title：Brain & development

authors： Yuen EC,Howe CL,Li Y,Holtzman DM,Mobley WC

更新日期：1996-09-01 00:00:00

abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...

journal_title：Brain & development

authors： Papetti L,Parisi P,Leuzzi V,Nardecchia F,Nicita F,Ursitti F,Marra F,Paolino MC,Spalice A

更新日期：2013-10-01 00:00:00

abstract：:We studied the relationship between theophylline and memory/learning using an elevated plus-maze test and measuring spontaneous locomotor activity in developing mice. There were no significant differences in transfer latency (TL) in 21-, 30- and 42-day-old mice in the acquisition trial, but theophylline significantly ...

journal_title：Brain & development

authors： Hirose M,Yokoyama H,Iinuma K

更新日期：2004-10-01 00:00:00

abstract：:Serial polygraphic recordings of two to three hours duration were made in five full-term newborns with trisomy 18 and one full-term newborn with trisomy 13 syndrome. The newborns with 18 trisomy syndrome were poor sleepers with long periods of wakefulness and/or drowsiness. There were no consistent abnormalities in th...

journal_title：Brain & development

authors： Watanabe K,Hara K,Miyazaki S,Iwase K

更新日期：1979-01-01 00:00:00

abstract：:Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0-30 days (n = 48) of age in control samples...

journal_title：Brain & development

authors： Sawada Y,Shintaku H,Isshiki G

更新日期：1999-06-01 00:00:00

abstract：:Sixty patients (age-range one month to 14 years) with other types of epilepsy than infantile spasms were treated with clonazepam. Disappearance of seizures and normalization of abnormal EEG with disappearance of seizures were recognized in 77% and 50%, respectively. Seizures disappeared in 71% of the patients with gen...

journal_title：Brain & development

authors： Ishikawa A,Sakuma N,Nagashima T,Kohsaka S,Kajii N

更新日期：1985-01-01 00:00:00

abstract：:Serial cranial ultrasound examinations were performed through the anterior fontanel to detect and follow the complications of bacterial meningitis in 16 neonates. The final results included normal findings in 9 patients, and abnormal in the other 7 cases. Among the latter, 5 patients with hydrocephalus were sequential...

journal_title：Brain & development

authors： Hung KL

更新日期：1986-01-01 00:00:00

abstract：:Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...

journal_title：Brain & development

authors： Ono H,Suto T,Kinoshita Y,Sakano T,Furue T,Ohta T

更新日期：2009-11-01 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：:A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fib...

journal_title：Brain & development

authors： Okada S,Kato T,Tanaka H,Takada K,Aramitsu Y

更新日期：1988-01-01 00:00:00

abstract：:In the past decade research on childhood epilepsy in our country has progressed in a step-by-step fashion. At first clinical experiences of the diagnosis and treatment of childhood epilepsy and febrile convulsions as to the results of follow-up studies were published. These have helped to overcome the barriers of trad...

journal_title：Brain & development

authors： Zuo CH

更新日期：1988-01-01 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：: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：:Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...

journal_title：Brain & development

authors： Aarli JA

更新日期：1993-01-01 00:00:00

abstract：:Potassium bromide was tried for two children with daily convulsive focal motor seizures with unconsciousness and focal motor seizure status. The treatment resulted in complete cessation of the attacks. It has been reported that bromide is effective for generalized tonic-clonic seizures and not for complex partial seiz...

journal_title：Brain & development

authors： Takayanagi M,Yamamoto K,Nakagawa H,Munakata M,Kato R,Yokoyama H,Haginoya K,Iinuma K

更新日期：2002-04-01 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：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：:We report an autopsy case of bathtub drowning in epilepsy. A 26-year-old female with mental retardation had been treated for refractory epilepsy. Her younger sister found her floating supine in the bathtub 45 min after starting bathing. Neuropathological examination revealed cerebral cortical dysplasia in the precentr...

journal_title：Brain & development

authors： Osamura T,Fushiki S,Yoshioka H,Yamanaka T,Mizuta R

更新日期：1997-11-01 00:00:00

abstract：:To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...

journal_title：Brain & development

authors： Fukushima J,Hatta T,Fukushima K

更新日期：2000-05-01 00:00:00

abstract：:We recorded serially brainstem auditory evoked response (BAER) during the neonatal period in term infants who suffered perinatal asphyxia. The amplitudes of BAER components was analysed at 40 dB above BAER threshold of each subject who had a threshold

journal_title：Brain & development

authors： Jiang ZD,Shao XM,Wilkinson AR

更新日期：2006-10-01 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：:Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents....

journal_title：Brain & development

authors： Topcu M,Saatci I,Topcuoglu MA,Kose G,Kunak B

更新日期：1998-04-01 00:00:00

abstract：:A female case of developmental arrest, early-onset seizures, retinal pigmentary degeneration, progressive central nervous symptoms and peripheral neuropathy, associated with progressive renal dysfunction, anemia and nephrotic syndrome, was presented. Her epileptic syndrome was possibly an early myoclonic encephalopath...

journal_title：Brain & development

authors： Hirabayashi S,Shigematsu H,Iai M,Takashima S

更新日期：2000-01-01 00:00:00

abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...

journal_title：Brain & development

authors： Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

更新日期：2015-08-01 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：:We determined the efficacy of and tolerability to zonisamide (ZNS) in newly diagnosed patients with infantile spasms. ZNS, 4-20 mg/kg per day, was introduced as an add-on therapy or monotherapy in 27 children with infantile spasms (cryptogenic, 2; symptomatic, 25). The dosage was initially 2-4 mg/kg per day, and then ...

journal_title：Brain & development

authors： Yanai S,Hanai T,Narazaki O

更新日期：1999-04-01 00:00:00

abstract：:The clinical profile of 33 children (19 boys, 14 girls) with multiple congenital contractures has been studied. The majority (54%) belong to arthrogryposis multiplex congenita with a static clinical course. Children were classified into three groups: group I (limb involvement only; n = 21) having arthrogryposis multip...

journal_title：Brain & development

authors： Wong V

更新日期：1997-04-01 00:00:00

abstract：OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...

journal_title：Brain & development

authors： Nomura K,Okada K,Noujima Y,Kojima S,Mori Y,Amano M,Ogura M,Hatagaki C,Shibata Y,Fukumoto R

更新日期：2014-10-01 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