Epileptic seizures and structural abnormalities in a patient with holoprosencephaly.

abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...

journal_title：Brain & development

authors： Arslanoglu S,Yalaz M,Gökşen D,Coker M,Tütüncüoglu S,Akisu M,Darcan S,Kultursay N,Ciriş M,Demirtaş E

更新日期：2001-12-01 00:00:00

abstract：:Somatomotor cortex of mice with microcephaly induced by DNA polymerase inhibitor cytosine arabinoside (Ara-C), has been studied with a modified Golgi-Cox staining and a HRP retrograde tracing method. Microcephalic mice were prepared by prenatal injections of cytosine arabinoside on days 13.5 and 14.5 of pregnancy. Cyt...

journal_title：Brain & development

authors： Ohno M

更新日期：1984-01-01 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：:Findings from a Golgi study of the visual cortex in patients with the Down syndrome were compared with those from neurologically normal, age-matched control subjects. The dendritic atrophy seen in childhood continued into adulthood, with a marked decrease in dendritic branching, dendritic length, and spine frequency i...

journal_title：Brain & development

authors： Takashima S,Ieshima A,Nakamura H,Becker LE

更新日期：1989-01-01 00:00:00

abstract：:Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibro...

journal_title：Brain & development

authors： Ida H,Rennert OM,Watabe K,Eto Y,Maekawa K

更新日期：1994-11-01 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：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...

journal_title：Brain & development

authors： Saeki K,Saito Y,Komaki H,Sakakibra T,Nakagawa E,Sugai K,Sakuma H,Sasaki M,Honda T,Hayashi H,Katori N,Miyahara Y

更新日期：2010-08-01 00:00:00

abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...

journal_title：Brain & development

authors： Morioka M,Marubayashi T,Masumitsu T,Miura M,Ushio Y

更新日期：1995-05-01 00:00:00

abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...

journal_title：Brain & development

authors： Ozaki A,Sasaki M,Hiraide T,Sumitomo N,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sato N,Nakashima M,Saitsu H

更新日期：2020-06-01 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：: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：:The aim of this study is to investigate predictive factors of post-traumatic syndrome in children with minor head injury. Prospective neurological, electroencephalographic and psychological investigations were performed in 98 children aged 3-13 years within 24 h after the trauma and 4-6 weeks later. Inclusion criteria...

journal_title：Brain & development

authors： Korinthenberg R,Schreck J,Weser J,Lehmkuhl G

更新日期：2004-03-01 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：: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：:From the mass screening EEG, 31 primary school children and 17 junior high school (Jr-HS) students with paroxysmal discharge were chosen. An equal number of children with disorganized patterns, including a few borderline ones, and with normal patterns were selected from the same classes. School performance and behavio...

journal_title：Brain & development

authors： Hara H,Tsuchiya S,Maruyama H

更新日期：1983-01-01 00:00:00

abstract：BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...

journal_title：Brain & development

authors： Harahap NI,Takeuchi A,Yusoff S,Tominaga K,Okinaga T,Kitai Y,Takarada T,Kubo Y,Saito K,Sa'adah N,Nurputra DK,Nishimura N,Saito T,Nishio H

更新日期：2015-08-01 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：:Eight patients who satisfied the following three criteria: 1) autistic behavior, 2) mental retardation and 3) stereotypic hand movements were evaluated. Four patients fulfilled the diagnostic criteria for the Rett syndrome developed by representatives of the International Rett Syndrome Association and the Center for D...

journal_title：Brain & development

authors： Lin MY,Wang PJ,Lin LH,Shen YZ

更新日期：1991-07-01 00:00:00

abstract：:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...

journal_title：Brain & development

authors： Steinlin M,Schmitt B,Ferrini B

更新日期：1998-06-01 00:00:00

abstract：:Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...

journal_title：Brain & development

authors： Stahl D,Parise E,Hoehl S,Striano T

更新日期：2010-04-01 00:00:00

abstract：:Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...

journal_title：Brain & development

authors： Nomura Y,Segawa M

更新日期：1992-05-01 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：:Long-term social prognosis of 120 Japanese patients with West syndrome was surveyed using structured questionnaire at the age of 25.4 years in average. The survey revealed that ADL score remained null in one-fifth of cases; the majority entered in special education course for disabled children; only eleven cases were ...

journal_title：Brain & development

authors： Kumagai T,Ito M,Yamazaki Y,Sekijima K,Sakakibara K,Matsutomo Y,Hijikigawa F,Yamada H

更新日期：2001-11-01 00:00:00

abstract：:An unique cytoplasmic inclusion was found in astrocytes of a 2-month-old female baby who showed Leigh-like brain lesions with lactic acidosis, hypoglycemia and hepatomegaly. Although a defective enzyme was not determined, a metabolic disorder was suggested from clinicopathological observations. Symmetrically distribut...

journal_title：Brain & development

authors： Yamamoto T,Armstrong D,Shibata N,Kato Y,Kobayashi M

更新日期：2000-06-01 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：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...

journal_title：Brain & development

authors： Torisu H,Yoshikawa Y,Yamaguchi-Takada Y,Yano T,Sanefuji M,Ishizaki Y,Sawaishi Y,Hara T

更新日期：2013-05-01 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：: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：:Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...

journal_title：Brain & development

authors： Takayama R,Takahashi Y,Mogami Y,Ikegami M,Mukaida S,Ikeda H,Imai K,Shigematsu H,Suzuki Y,Inoue Y

更新日期：2012-09-01 00:00:00

abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...

journal_title：Brain & development

authors： Anzai Y,Hayashi M,Fueki N,Kurata K,Ohya T

更新日期：2006-08-01 00:00:00