Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
スポンサーリンク
概要
- 論文の詳細を見る
- 2011-05-01
著者
-
Sugai Kenji
国立精神･神経センター病院 小児神経科
-
Sugai Kenji
Department Of Neuropediatrics National Center Of Neurology And Psychiatry
-
Komaki Hirofumi
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Sugai Kenji
Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat
-
Hattori Ayako
Department Of Applied Chemistry Nagoya Institute Of Technology
-
Sasaki Masayuki
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Kaneko Yuu
Departments Of Neurosurgery National Center Hospital For Mental Nervous And Muscular Disorders Natio
-
Sasaki Masayuki
National Center Hospital For Mental Nervous Muscular Disorders National Center Of Neurology And Psyc
-
Nakagawa Eiji
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Nakagawa Eiji
Department Of Child Neurology National Center Hospital For Mental Nervous And Muscular Disorders Nat
-
Sasaki Masayuki
Department Of Anesthesiology Gunma University Graduate School Of Medicine
-
Hattori Ayako
Department Of Child Neurology National Center Of Neurology And Psychiatry (ncnp)
-
Kurosawa Kenji
Division Of Medical Genetics Clinical Research Institute Kanagawa Children's Medical Center
-
Kurosawa Kenji
Division Of Genetics Clinical Research Institute Kanagawa Children's Medical Center
-
Sasaki Masayuki
Departments Of Child Neurology National Center Hospital For Neurology And Psychiatry National Center
-
Kaneko Yuu
Department Of Neurosurgery Ncnp
-
Saito Yoshiaki
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Komaki Hirofumi
Department Of Child Neurology National Center Hospital Of Neurology And Psychiatry National Center O
-
Ichihashi Izumi
Department Of Pediatrics School Of Medicine Showa University
-
Saito Yoshiaki
Department Of Child Neurology Institute Of Neurological Sciences Faculty Of Medicine Tottori Univers
-
Komaki Hirofumi
Department Of Child Neurology National Center Hospital For Mental Nervous And Disorders National Cen
-
KUBOTA Masaya
Division of Neurology, National Center for Child Health and Development
-
Kubota Masaya
Division Of Neurology National Center For Child Health And Development
-
Ichihashi Izumi
Department Of Pediatrics Takatsu Central Hospital
-
Sasaki Masayuki
Department of Child Neurology, National Center of Neurology and Psychiatry
関連論文
- An analysis of epilepsy with chromosomal abnormalities
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- Extraosseous accumulation of ^Tc-HMDP to radiation nephropathy, mimicking recurrent neuroblastoma
- Alterations of tumor suppressor genes (Rb, p16, p27 and p53) and an increased FDG uptake in lung cancer
- Comparison of ^FDG-PET with ^Tc-HMDP scintigraphy for the detection of bone metastases in patients with breast cancer
- PET evaluation of the relationship between D_2 receptor binding and glucose metabolism in patients with parkinsonism
- Lesion detectability of a gamma camera based coincidence system with FDG in patients with malignant tumors : A comparison with dedicated positron emission tomography
- An analysis of the physiological FDG uptake pattern in the stomach
- Differential FDG accumulation associated with GLUT-1 expression in a patient with lymphoma
- Clinical impact of whole body FDG-PET on the staging and therapeutic decision making for malignant lymphoma
- ^C-methionine uptake in cerebrovascular disease : A comparison with ^F-FDG PET and ^Tc-HMPAO SPECT
- The usefulness of dipyridamole thallium-201 single photon emission computed tomography for predicting perioperative cardiac events in patients undergoing non-cardiac vascular surgery
- Comparison of MET-PET and FDG-PET for differentiation between benign lesions and malignant tumors of the lung
- Prevalence and features of migraine in Japanese junior high school students aged 12-15yr
- Cardiac Vagal Activation by Adrenocorticotropic Hormone Treatment in Infants with West Syndrome
- Periventricular Leukomalacia with Late-Onset Circulatory Dysfunction of Premature Infants : Correlation with Severity of Magnetic Resonance Imaging Findings and Neurological Outcomes
- Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
- Hyperkinetic movement disorder in a child treated by globus pallidus stimulation
- Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia
- Surgical Treatment of a Case of Early Infantile Epileptic Encephalopathy with Suppression-Bursts Associated with Focal Cortical Dysplasia
- Tremor and seizures associated with chronic manganese intoxication
- III B11 Infantile spasms treated by peri-insular hemispherotomy : a Case report
- Early onset distal muscular dystrophy
- SPECT evaluation of cerebral blood flow during arm exercise in patients with subclavian steal
- Long-term therapy with cytochrome c, flavin mononucleotide and thiamine diphosphate for a patient with Kearns-Sayre syndrome
- Oral etodolac, a COX-2 inhibitor, reduces postoperative pain immediately after fast-track cardiac surgery
- Synthesis and Characterization of Hybrid Porphyrin Dimers and Halogenated Porphyrin Dimers
- Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
- Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
- Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
- Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability : Coexistence of auditory neuropathy and cochlear hearing loss
- Molecular genetic study in Japanese patients with Alexander disease : a novel mutation, R79L
- II C12 Treatment of intractable epilepsies with supratherapeutic levels of phenobarbital
- Mechanical ventilation care in severe childhood neurological disorders
- Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
- A severely brain-damaged case of 3-hydroxyisobutyric aciduria
- Paroxysmal discharges on EEG in young autistic patients are frequent in frontal regions
- Siblings of Schwartz-Jampel Syndrome with abnormal muscle computed tomographic findings
- Otoacoustic emission in patients with neurological disorders who have auditory brainstem response abnormality
- Transient seizure disappearance due to bilateral striatal necrosis in a patient with intractable epilepsy
- Panic Disorder in Irritable Bowel Syndrome
- A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy
- Two pathogenic point mutations exist in the authentic mitochondrial genome, not in the nuclear pseudogene
- Cerebral blood flow and vascular response to hypercapnia in hypertensive patients with leukoaraiosis
- Long-term effect of flunarizine on patients with alternating hemiplegia of childhood in Japan
- Characteristics of Bacillus subtilis Isolated from Composts Suppressing Phytopathogenic Microorganisms
- Hypoxic Effects on Cholesterol Metabolism of Cultured Rat Aortic and Brain Microvascular Endothelial Cells, and Aortic Vascular Smooth Muscle Cells
- Magnetic resonance imaging in congenital facial palsy
- Familial reducing body myopathy
- Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts ; comparison with those of early myoclonic encephalopathy and West syndrome
- Fabrication and Characterization of Nb-(Nb Nanoconstrictions)-NbN Short Weak Links
- Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
- Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
- Electron Transfer on Electrode Modified with Keratin Membranes Containing Manganese Porphyrins
- Biodistribution and breast tumor uptake of 16α-[^F]-fluoro-17β-estradiol in rat
- Relapse patterns of localized non-Hodgkin's lymphoma of the head and neck after clinical remission: results of a strict follow-up procedure
- Sex-related differences in the muscarinic acetylcholinergic receptor in the healthy human brain : A positron emission tomography study
- Cerebral muscarinic acetylcholinergic receptor measurement in Alzheimer's disease patients on ^C-N-methyl-4-piperidyl benzilate : Comparison with cerebral blood flow and cerebral glucose metabolism
- III B9 Resective epilepsy surgery in children : comparison between younger and older age groups
- Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia
- A clinical evaluation of FDG-PET to assess the response in radiation therapy for bronchogenic carcinoma
- FDG-PET in infectious lesions: The detection and assessment of lesion activity
- Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis
- Gender-Related Difference in Relationship between Insulin Resistance and Serum Leptin Level in Japanese Type 2 Diabetic and Non-Diabetic Subjects
- Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
- Callosal agenesis followed postnatally after prenatal diagnosis
- Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms
- Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children
- Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly
- Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
- Tourette's syndrome in Taiwan : an epidemiological study of tic disorders in an elementary school at Taipei County
- Hemifacial seizures due to ganglioglioma of cerebellum
- Electroencephalography-Guided Resection of Dysembryoplastic Neuroepithelial Tumor
- Acute Necrotizing Encephalopathy of Childhood due to Influenza Type A Virus
- A Patient with Influenza A-associated Encephalopathy Treated with Mild Hypothermic Therapy and Methylprednisolone Pulse Therapy
- Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
- Nationwide survey (incidence, clinical course, prognosis) of Rasmussen's encephalitis
- Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy
- III B10 Evaluation of ictal SPECT in the assesment and surgical treatment of intractable childhood epilepsy
- III B8 Frontal lobe epilepsy with diffuse cortical dysplasia in early childhood : report of three surgical cases
- II E14 A semiological analyses of hypermotor seizures in 8 surgical cases
- II D4 Comparison between spike mapping by MEG and intracranial EEG recordings
- Visual Activation Positron Emission Tomography for Presurgical Evaluation of Occipital Lobe Epilepsy : Case Report
- Current management of febrile seizures in Japan : An overview
- A case of intraneural perineurioma presenting with monomelic atrophy in a child
- Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy
- Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
- Augmented startle responses in opsoclonus-myoclonus syndrome
- Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
- CD4^+ CD25^ regulatory T cell in childhood ocular myasthenia gravis
- Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals : A pilot study
- Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection
- Absence of small-vessel abnormalities in alternating hemiplegia of childhood
- Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
- SISCOM technique with a variable Z score improves detectability of focal cortical dysplasia : a comparative study with MRI
- Decreased resting energy expenditure in patients with Duchenne muscular dystrophy
- Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies
- A case of congenital axonal neuropathy associated with West syndrome
- Posterior Disconnection in Early Infancy to Treat Intractable Epilepsy With Multilobar Cortical Dysplasia:—Three Case Reports—
- Posterior Disconnection in Early Infancy to Treat Intractable Epilepsy With Multilobar Cortical Dysplasia -Three Case Reports-