Genomes and Genes
Affiliation: Epilepsy Center
- [A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste]Jun Tohyama
Department of Pediatrics, National Nishi Niigata Central Hospital, Niigata
No To Hattatsu 36:65-9. 2004..This patient illustrates that bilateral paramedian thalamic infarction can occur in a previously healthy child...
- Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapyJun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
J Child Neurol 26:885-90. 2011..Administration of low-dose prednisolone over a long period was effective for improving the neurological impairments of this patient...
- Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patientJun Tohyama
Department of Pediatrics, Nishi Niigata Chuo National Hospital, Japan
Am J Med Genet A 155:130-3. 2011..1 might contribute to the dysmorphic facial appearance. A milder phenotype as the Dandy-Walker malformation in our patient supports the idea that modifying loci/genes can influence the development of cerebellar malformation...
- Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matterJun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Nishi ku, Niigata City, Niigata 950 2085, Japan
Brain Dev 30:349-55. 2008..The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome...
- Megalencephaly and polymicrogyria with polydactyly syndromeJun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, and Department of Neurosurgery, Brain Research Institute, Niigata University, Japan
Pediatr Neurol 37:148-51. 2007..Visual disturbance due to white matter abnormality appears to represent a significant characteristic of this syndrome. The genetic background of the syndrome remains unclear...
- [An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography]Jun Tohyama
Department of Pediatrics, Nishi Niigata Chuo National Hospital
No To Hattatsu 39:295-9. 2007..MEG can identify both the epileptogenic zone and lesion underlying the multiple CAs in the infants with catastrophic partial seizures...
- West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14Jun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Japan
Am J Med Genet A 155:2584-8. 2011..2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms...
- Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsyTakanori Kamimura
Department of Homeostatic Regulation and Development, Niigata Graduate School of Medical and Dental Sciences, and Department of Pediatric Neurology, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
Epilepsia 47:991-7. 2006....
- Early-onset absence epilepsy at eight months of ageYu Kobayashi
Department of Pediatrics, Nishi Niigata Chuo National Hospital, Niigata
Epileptic Disord 13:417-21. 2011..Patients with intractable, very early-onset absence epilepsy with a myoclonic component have an unfavourable outcome and may be classified under a new epileptic syndrome, such as "early infantile absence epilepsy"...
- A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, and Nishi Niigata Chuo National Hospital, Niigata, Japan
Am J Hum Genet 81:361-6. 2007..Our observation that EIEE had a longer expansion of the polyalanine tract than is seen in West syndrome is consistent with the findings of earlier onset and more-severe phenotypes in EIEE than in West syndrome...
- Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic studyNaka Saito
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, and Department of Homeostatic Regulation and Development, Course for Biological Functions and Medical Control, Niigata Graduate School of Medical and Dental Sciences, Japan
Pediatr Neurol 38:104-10. 2008..These results suggest that the location of spike discharges is not directly related to seizure symptoms, but instead indicates maturation-related cortical hyperexcitability in patients with Panayiotopoulos syndrome...
- Roles of matrix metalloproteinase-9 and tissue inhibitors of metalloproteinases 1 in acute encephalopathy following prolonged febrile seizuresNaoko Suenaga
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi 755 8505, Japan
J Neurol Sci 266:126-30. 2008..Furthermore, an imbalance of serum MMP-9 and TIMP-1 levels in patients with AEPFS may be associated with severe neurological sequelae...
- A magnetoencephalographic study of patients with Panayiotopoulos syndromeOsamu Kanazawa
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Niigata 950 2085, Japan
Epilepsia 46:1106-13. 2005..To characterize this condition further, we examined the localization of equivalent current dipoles (ECDs) of spike discharges by magnetoencephalography (MEG) in patients with PS...
- Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotypeKana Hosoki
Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
J Pediatr 155:900-903.e1. 2009..To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype...
- Single and multiple clusters of magnetoencephalographic dipoles in neocortical epilepsy: significance in characterizing the epileptogenic zoneMakoto Oishi
Department of Neurosurgery, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Niigata City, Niigata 950 2085, Japan
Epilepsia 47:355-64. 2006..To characterize the epileptogenic zone in neocortical epilepsy (NE) by using magnetoencephalography (MEG)...
- Acute encephalopathy in children with Dravet syndromeAkihisa Okumura
Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo ku, Tokyo, Japan
Epilepsia 53:79-86. 2012..The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome...
- Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic dischargesNaka Saitoh
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
Pediatr Neurol 36:190-4. 2007..In addition, the result of this study, that frontal spike discharges seem to occur in relatively older patients, may suggest a correlation between brain maturation and spike occurrence...
- Gómez-López-Hernández syndrome in a Japanese patient: a case reportYu Kobayashi
Department of Child Neurology, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan Electronic address
Brain Dev 37:356-8. 2015..Bilateral ectopic cerebellums were also observed. This report describes the long-term clinical outcome of GLHS and a new neuroradiological finding regarding rhombencephalosynapsis. ..
- Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutationTsukasa Ohashi
Department of Child Neurology, Nishi Niigata Chuo National Hospital, Niigata
Epileptic Disord 16:208-12. 2014..Published with video sequences]. ..
- Refractory infantile spasms associated with mosaic variegated aneuploidy syndromeNoriyuki Akasaka
Department of Child Neurology, Nishi Niigata Chuo National Hospital, Niigata, Japan
Pediatr Neurol 49:364-7. 2013..Clinical features also include prenatal-onset growth retardation, microcephaly, mild dysmorphism, feeding difficulty, hypotonia, seizures, and developmental delay...
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura
From the Department of Human Genetics K Nakamura, K Nishiyama, H K, M N, Y T, N Miyake, N Matsumoto, H S, Yokohama City University Graduate School of Medicine, Yokohama Department of Pediatrics K Nakamura, M K, K Hayasaka, Yamagata University Faculty of Medicine, Yamagata Division of Neurology H O, S Y, M Okuda, T W, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama Department of Child Neurology E N, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo Department of Pediatric Neurology K Haginoya, Takuto Rehabilitation Center for Children, Sendai Department of Pediatrics J T, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata Department of Pediatrics S S, Osaka Medical College Hospital, Osaka National Epilepsy Center K I, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka Department of Pediatrics S T, Yokohama City University Medical Center, Service de Nutrition
Neurology 81:992-8. 2013..We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs)...
- Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutationSawako Yamazaki
Department of Pediatrics, Niigata City General Hospital, Niigata, Japan
Pediatr Neurol 45:193-6. 2011....
- SPTAN1 encephalopathy: distinct phenotypes and genotypesJun Tohyama
1 Department of Child Neurology, Nishi Niigata Chuo National Hospital, Niigata, Japan 2 Niigata University Medical and Dental Hospital, Niigata, Japan
J Hum Genet 60:167-73. 2015..It is important that this syndrome is recognized by pediatric neurologists to enable proper diagnostic work-up for patients. ..
- Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM geneTakehiro Serikawa
Department of Obstetrics and Gynecology, Niigata University Medical and Dental Hospital, Niigata, Japan
Congenit Anom (Kyoto) 54:243-5. 2014..She chose to terminate the pregnancy. A C924T mutation can be disease causing for XLH, and the detection of this mutation would aid in genetic counseling for the prenatal diagnosis of XLH. ..
- Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2Yu Kobayashi
Department of Pediatrics, Nishi Niigata Chuo National Hospital, Nishi ku, Niigata, Japan
Brain Dev 34:601-4. 2012..To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder...
- [Serial MEG change in a boy with Landau-Kleffner syndrome]Takanori Kamimura
Department of Pediatrics, Epilepsy Center, National Nishi Niigata Central Hospital, Niigata
No To Hattatsu 36:395-400. 2004..The clinical course of this patient suggests that MEG findings are useful not only in making precise diagnosis of LKS but also in assessing and predicting the effects of treatment...
- CSF neurofilament and soluble TNF receptor 1 levels in subacute sclerosing panencephalitisTakeshi Matsushige
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan
J Neuroimmunol 205:155-9. 2008..011). We suggest that CSF NF-H levels can be used as a marker of development of neuronal degeneration in SSPE, and that TNF-alpha modifies the neurodestructive pathogenesis in SSPE...
- Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizuresTakashi Ichiyama
Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1 1 1 Minamikogushi, Ube, Yamaguchi 755 8505, Japan
Brain Dev 30:47-52. 2008..Our results suggest that serum IL-6, IL-10, TNF-alpha, and CSF IL-6 are part of the regulatory system of cytokines in AEPFS...
- [Child case of chronic inflammatory demyelinating polyneuropathy showing phagocytic myelinolysis and regenerative changes on electron microscopic analysis of the sural nerve]Sawako Yamazaki
Department of Pediatrics, Niigata City General Hospital, Niigata
No To Hattatsu 38:44-8. 2006..So, he was diagnosed as having definite CIDP and prednisolone with gamma-globulin infusion was effective to ameliorate his symptoms...
- Multi-institutional study on the correlation between chromosomal abnormalities and epilepsyTomohiro Kumada
Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan
Brain Dev 27:127-34. 2005..For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy...
- Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosineHiroki Maruyama
Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
Clin J Am Soc Nephrol 8:629-36. 2013..Elevated plasma globotriaosylsphingosine is reported to be a hallmark of classic Fabry disease. The purpose of this study was to examine the usefulness of globotriaosylsphingosine as a secondary screening target for Fabry disease...
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
Nat Genet 40:782-8. 2008..Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE...