RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...

journal_title：Brain & development

authors： Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega A

更新日期：1996-01-01 00:00:00

abstract：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...

journal_title：Brain & development

authors： Cirignotta F,Sforza E,Burroni M,Zappella M,Lugaresi E

更新日期：1990-01-01 00:00:00

abstract：:To better define the characteristic clinical features of benign convulsions with mild gastroenteritis, recently recognized as a new entity in Japan, we reviewed all the 10 patients we have seen from 1992 to 1994. The clinical features have been previously reported in the literature to be afebrile generalized tonic-clo...

journal_title：Brain & development

authors： Komori H,Wada M,Eto M,Oki H,Aida K,Fujimoto T

更新日期：1995-09-01 00:00:00

abstract：:Two children treated for status epilepticus had low plasma phenytoin levels during enteral feeding, despite adequate oral dosage. The target range (10-20 mg/l) was achieved when feeds were stopped, or when intravenous phenytoin was used. Enteral feeding may interfere with the absorption of oral phenytoin thereby compr...

journal_title：Brain & development

authors： O'Hagan M,Wallace SJ

更新日期：1994-03-01 00:00:00

abstract：:We report a 20-month-old girl with an unruptured aneurysm of the middle cerebral artery. The initial sign was complex partial seizures. Magnetic resonance angiography showed an aneurysm of the right middle cerebral artery. Cerebral angiography confirmed the presence of a saccular aneurysm. After 3 months, the aneurysm...

journal_title：Brain & development

authors： Tanaka K,Hirayama K,Hattori H,Matsuoka O,Sakamoto H,Hakuba A,Murata R

更新日期：1994-05-01 00:00:00

abstract：:Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...

journal_title：Brain & development

authors： Kawase K,Nishino I,Sugimoto M,Kouwaki M,Koyama N,Yokochi K

更新日期：2015-02-01 00:00:00

abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...

journal_title：Brain & development

authors： Rajadhyax M,Neti G,Crow Y,Tyagi A

更新日期：2007-05-01 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：:A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...

journal_title：Brain & development

authors： Kohyama J,Suzuki N,Kajiwara M,Shimohira M,Iwakawa Y

更新日期：1993-11-01 00:00:00

abstract：:We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...

journal_title：Brain & development

authors： Li M,Hao XY,Qing J,Wu XR

更新日期：1996-05-01 00:00:00

abstract：:Carrier detection for 12 women and prenatal diagnosis for six fetuses in Japanese families with a patient with Menkes disease (MNK) were performed by gene analysis and/or measurement of the copper concentration in cultured cells. Six out of eight mothers of MNK patients were carriers while two (25%) were not carriers....

journal_title：Brain & development

authors： Gu YH,Kodama H,Sato E,Mochizuki D,Yanagawa Y,Takayanagi M,Sato K,Ogawa A,Ushijima H,Lee CC

更新日期：2002-10-01 00:00:00

abstract：OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...

journal_title：Brain & development

authors： Hayashi N,Okumura A,Kubota T,Tsuji T,Kidokoro H,Fukasawa T,Hayakawa F,Ando N,Natsume J

更新日期：2012-09-01 00:00:00

abstract：:Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...

journal_title：Brain & development

authors： Kakita H,Hussein MH,Yamada Y,Henmi H,Kato S,Kobayashi S,Ito T,Kato I,Fukuda S,Suzuki S,Togari H

更新日期：2009-10-01 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：: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：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...

journal_title：Brain & development

authors： Nakamura M,Watanabe S,Inagaki M,Hirai M,Miki K,Honda Y,Kakigi R

更新日期：2013-04-01 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：:Thirteen to 43% of patients with infantile spasms (IS) have other types of seizures, which are considered a feature of an unfavourable prognosis and, to some extent, as a contra-indication for steroid treatment. The present series comprised 43 patients treated with steroids, who suffered from other types of seizures p...

journal_title：Brain & development

authors： Velez A,Dulac O,Plouin P

更新日期：1990-01-01 00:00:00

abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...

journal_title：Brain & development

authors： Kobayashi Y,Tohyama J,Takahashi Y,Goto T,Haginoya K,Inoue T,Kubota M,Fujita H,Honda R,Ito M,Kishimoto K,Nakamura K,Sakai Y,Takanashi JI,Tanaka M,Tanda K,Tominaga K,Yoshioka S,Kato M,Nakashima M,Saitsu H,Matsumot

更新日期：2021-01-09 00:00:00

abstract：:We report a 2-month-old boy who presented with apneic attacks as a manifestation of epileptic seizures at onset and eventually progressed to infantile spasms. At onset, at 2 months of age, apneic attacks were the sole symptom of epileptic fits. Although these seizures were accompanied by cyanosis, bradycardia was not ...

journal_title：Brain & development

authors： Kamei A,Ichinohe S,Ito M,Fujiwara T

更新日期：1996-05-01 00:00:00

abstract：:Blink reflex can be elicited by sudden strong auditory stimulation. Using a special transducer wer recorded this reflex which appears as a microvibration of the eyelid, and named it auditory-evoked eyelid microvibration (AMV). As the reflex pathway of AMV exists in the brainstem, AMV is an easy and useful way of knowi...

journal_title：Brain & development

authors： Yamada A

更新日期：1984-01-01 00:00:00

abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...

journal_title：Brain & development

authors： Cash SJ,Mcgue BP,Reynolds TS,Crist ER

更新日期：2020-02-01 00:00:00

abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...

journal_title：Brain & development

authors： Okumura A,Arai E,Kitamura Y,Abe S,Ikeno M,Fujimaki T,Yamamoto T,Shimizu T

更新日期：2015-11-01 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：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...

journal_title：Brain & development

authors： Imamura S,Sakuma K,Takahashi T

更新日期：1983-01-01 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

abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 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：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：:A 6-month-old boy with persistent primitive trigeminal artery (PPTA) presented with stridor, dysphagia, delayed motor development and postural neck and shoulder dystonia. Magnetic resonance imaging/angiography and ultrasonography revealed PPTA, with flow from the dilated basilar artery to the right internal carotid ar...

journal_title：Brain & development

authors： Okanishi T,Saito Y,Miki S,Nagaishi J,Hanaki K,Tomita Y,Fukuda C,Fujii S,Fujiwara K,Kawamoto K,Hata F,Maegaki Y,Ohno K

更新日期：2007-04-01 00:00:00