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12 results on '"Suzuki-Muromoto, Sato"'

3. Recurrent acute necrotizing encephalopathy in a boy with RANBP2 mutation and thermolabile CPT2 variant: The first case of ANE1 in Japan

Author

Ohashi, Eri, primary, Hayakawa, Itaru, additional, Murofushi, Yuka, additional, Kawai, Michiko, additional, Suzuki-Muromoto, Sato, additional, Abe, Yuichi, additional, Yoshida, Michiko, additional, Kono, Naoko, additional, Kosaki, Rika, additional, Hoshino, Ai, additional, Mizuguchi, Masashi, additional, and Kubota, Masaya, additional

Published
2021
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5. A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation

Author

Okubo, Yukimune, primary, Endo, Wakaba, additional, Inui, Takehiko, additional, Suzuki-Muromoto, Sato, additional, Miyabayashi, Takuya, additional, Togashi, Noriko, additional, Sato, Ryo, additional, Arai-Ichinoi, Natsuko, additional, Kikuchi, Atsuo, additional, Kure, Shigeo, additional, and Haginoya, Kazuhiro, additional

Published
2018
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6. Genomic analysis identifies masqueraders of full-term cerebral palsy

Author

Takezawa, Yusuke, primary, Kikuchi, Atsuo, additional, Haginoya, Kazuhiro, additional, Niihori, Tetsuya, additional, Numata-Uematsu, Yurika, additional, Inui, Takehiko, additional, Yamamura-Suzuki, Saeko, additional, Miyabayashi, Takuya, additional, Anzai, Mai, additional, Suzuki-Muromoto, Sato, additional, Okubo, Yukimune, additional, Endo, Wakaba, additional, Togashi, Noriko, additional, Kobayashi, Yasuko, additional, Onuma, Akira, additional, Funayama, Ryo, additional, Shirota, Matsuyuki, additional, Nakayama, Keiko, additional, Aoki, Yoko, additional, and Kure, Shigeo, additional

Published
2018
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7. Intra-individual cognitive imbalance in ASD between perceptual reasoning and ambiguity-solving related to tool use: Comparison among children exhibiting ASD, AD/HD, and typical development

Author

Wakusawa, Keisuke, primary, Nara, Chieko, additional, Kubota, Yuki, additional, Tomizawa, Yayoi, additional, Taki, Yasuyuki, additional, Sassa, Yuko, additional, Kobayashi, Satoru, additional, Suzuki-Muromoto, Sato, additional, Hirose, Mieko, additional, Yokoyama, Hiroyuki, additional, Nara, Takahiro, additional, Kure, Shigeo, additional, Mori, Norio, additional, Takei, Noriyoshi, additional, and Kawashima, Ryuta, additional

Published
2018
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8. A patient with Muenke syndrome manifesting migrating neonatal seizures

Author

Okubo, Yukimune, primary, Kitamura, Taro, additional, Anzai, Mai, additional, Endo, Wakaba, additional, Inui, Takehiko, additional, Takezawa, Yusuke, additional, Suzuki-Muromoto, Sato, additional, Miyabayashi, Takuya, additional, Togashi, Noriko, additional, Oba, Hiroshi, additional, Saitsu, Hirotomo, additional, Matsumoto, Naomichi, additional, and Haginoya, Kazuhiro, additional

Published
2017
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9. A case of 3p deletion syndrome associated with cerebellar hemangioblastoma

Author

Suzuki-Muromoto, Sato, primary, Hino-Fukuyo, Naomi, additional, Haginoya, Kazuhiro, additional, Kikuchi, Atsuo, additional, Sato, Hiroki, additional, Sato, Yuko, additional, Nakayama, Tojo, additional, Kubota, Yuki, additional, Kakisaka, Yosuke, additional, Uematsu, Mitsugu, additional, Kumabe, Toshihiro, additional, and MD, Shigeo Kure, additional

Published
2016
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10. Leucine-485 deletion variant of BRAFmay exhibit the severe end of the clinical spectrum of CFC syndrome

Author

Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Nagai, Koki, Yamamura-Suzuki, Saeko, Anzai, Mai, Takezawa, Yusuke, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Kure, Shigeo, and Haginoya, Kazuhiro

Abstract

The genotype–phenotype correlation in BRAFvariant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAFvariant, p.Leu485del. The present case showed severe intellectual disability, impaired awareness, hyperekplexia, involuntary movements, early onset refractory seizures, and delayed myelination on brain magnetic resonance imaging as well as a polycystic and dysplastic kidney, which are previously unreported anomalies in CFC or RAS/mitogen-activated protein kinase syndromes related to BRAFvariant. CFC syndrome, especially caused by BRAFvariant, should be included in the differential diagnosis of patients with developmental and epileptic encephalopathies and hyperekplexia. Furthermore, we need to keep in mind that missense variants or the deletion of Leucine-485 may be associated with severe symptoms.

Published
2019
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11. A case of new PCDH12gene variants presented as dyskinetic cerebral palsy with epilepsy

Author

Suzuki-Muromoto, Sato, Wakusawa, Keisuke, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kato, Atsuko, Oba, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi, and Haginoya, Kazuhiro

Abstract

Here we report a Japanese patient with new compound heterozygous truncating variants in the PCDH12gene. As compared to the previously reported families who had congenital microcephaly, intrauterine growth retardation, intracranial calcification, and neonatal seizure associated with dysplasia of the midbrain-hypothalamus-optic tract, the present patient showed no midbrain-hypothalamus dysplasia or congenital/postnatal microcephaly, but dyskinetic cerebral palsy and severe intellectual disability as well as multifocal epilepsy. To understand phenotypic spectrum associated with PCDH12variants, more reports are needed.

Published
2018
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12. Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms.

Author

Suzuki-Muromoto, S, Uematsu M, Sato H, Numata-Uematsu Y, Nakayama T, Kiluchi A, Kobayashi T, Hino-Fukuyo N, and Kure S

Subjects
Adolescent, Anticonvulsants adverse effects, Child, Child, Preschool, Female, Humans, Infant, Male, Spasms, Infantile etiology, Treatment Outcome, Tuberous Sclerosis complications, Vigabatrin adverse effects, Anticonvulsants therapeutic use, Spasms, Infantile drug therapy, Tuberous Sclerosis drug therapy, Vigabatrin therapeutic use
Abstract

Objective: To evaluate the effects and tolerability of vigabatrin (VGB) in children with tuberous sclerosis (TS) with infantile spasms or tonic seizures. Methods: We examined the impact of VGB on a series of 17 children with TS visiting Tohoku University Hospital in Japan during April 2010 and May 2015. To minimize potential adverse effects, VGB was given to the patients for limited 6 months with titration from 30 mg/kg/day as an initial dose. Results: Main seizure types were classified into spasms (n=10) or tonic seizures (n=7). Seizure reduction was positively associated with seizure type of infantile spasms, lower maximum dosage, younger age on VGB administration, and earlier VGB treatment after the diagnosis. Seizure type of infantile spasm was an independent favorable predictor and also associated with long-term seizure reduction. Major adverse events included psychiatric symptoms (n=7) and electroretinogram (ERG) abnormalities (n=2). All symptoms were recovered by reducing the dosage of VGB. Conclusion: VGB is effective and well tolerated as first-line treatment for TS children with infantile spasms. Our “low dosage and limited period” protocol is efficient for improving seizure control as well as minimizing the potential risks of VGB.

Published
2016

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