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16 results on '"Miyata, Yohane"'

2. Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield

Author

Furukawa, Shogo, Kato, Mitsuhiro, Ishiyama, Akihiko, Kumada, Tomohiro, Yoshida, Takeshi, Takeshita, Eri, Chong, Pin Fee, Yamanouchi, Hideo, Kotake, Yuko, Kyoda, Takayoshi, Nomura, Toshihiro, Miyata, Yohane, Nakashima, Mitsuko, and Saitsu, Hirotomo

Abstract

Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARXvariants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying pathogenic variants in CEP85L, DYNC1H1, LAMC3, and DCXin four patients. Next, we performed genome sequencing (GS) on eight unsolved patients, and structural variants in PAFAH1B1, including an inversion and microdeletions involving several exons, were detected in three patients. Notably, these microdeletions in PAFAH1B1could not to be detected by copy number variation (CNV) detection tools based on the depth of coverage methods using ES data. The density of repeat sequences, including Alusequences or segmental duplications, which increase the susceptibility to structural variations, is very high in some lissencephaly spectrum genes (PAFAH1B1, TUBA1A, DYNC1H1). These missing CNVs were due to the limitations of detecting repeat sequences in ES-based CNV detection tools. Our study suggests that a combined approach integrating ES with GS can contribute to a higher diagnostic yield and a better understanding of the genetic landscape of the lissencephaly spectrum.

Published
2024
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3. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Author

Takata, Atsushi, Nakashima, Mitsuko, Saitsu, Hirotomo, Mizuguchi, Takeshi, Mitsuhashi, Satomi, Takahashi, Yukitoshi, Okamoto, Nobuhiko, Osaka, Hitoshi, Nakamura, Kazuyuki, Tohyama, Jun, Haginoya, Kazuhiro, Takeshita, Saoko, Kuki, Ichiro, Okanishi, Tohru, Goto, Tomohide, Sasaki, Masayuki, Sakai, Yasunari, Miyake, Noriko, Miyatake, Satoko, Tsuchida, Naomi, Iwama, Kazuhiro, Minase, Gaku, Sekiguchi, Futoshi, Fujita, Atsushi, Imagawa, Eri, Koshimizu, Eriko, Uchiyama, Yuri, Hamanaka, Kohei, Ohba, Chihiro, Itai, Toshiyuki, Aoi, Hiromi, Saida, Ken, Sakaguchi, Tomohiro, Den, Kouhei, Takahashi, Rina, Ikeda, Hiroko, Yamaguchi, Tokito, Tsukamoto, Kazuki, Yoshitomi, Shinsaku, Oboshi, Taikan, Imai, Katsumi, Kimizu, Tomokazu, Kobayashi, Yu, Kubota, Masaya, Kashii, Hirofumi, Baba, Shimpei, Iai, Mizue, Kira, Ryutaro, Hara, Munetsugu, Ohta, Masayasu, Miyata, Yohane, Miyata, Rie, Takanashi, Jun-ichi, Matsui, Jun, Yokochi, Kenji, Shimono, Masayuki, Amamoto, Masano, Takayama, Rumiko, Hirabayashi, Shinichi, Aiba, Kaori, Matsumoto, Hiroshi, Nabatame, Shin, Shiihara, Takashi, Kato, Mitsuhiro, and Matsumoto, Naomichi

Published
2019
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4. Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody

Author

Ochiai, Satoru, primary, Hayakawa, Itaru, additional, Ohashi, Eri, additional, Hamano, Sho, additional, Miyata, Yohane, additional, Sakuma, Hiroshi, additional, Hogetsu, Keita, additional, Gocho, Yoshihiro, additional, Ogura, Masao, additional, Uchiyama, Toru, additional, and Abe, Yuichi, additional

Published
2022
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6. Prenatal clinical manifestations in individuals with COL4A1/2 variants

Author

Itai, Toshiyuki, primary, Miyatake, Satoko, additional, Taguri, Masataka, additional, Nozaki, Fumihito, additional, Ohta, Masayasu, additional, Osaka, Hitoshi, additional, Morimoto, Masafumi, additional, Tandou, Tomoko, additional, Nohara, Fumikatsu, additional, Takami, Yuichi, additional, Yoshioka, Fumitaka, additional, Shimokawa, Shoko, additional, Okuno-Yuguchi, Jiu, additional, Motobayashi, Mitsuo, additional, Takei, Yuko, additional, Fukuyama, Tetsuhiro, additional, Kumada, Satoko, additional, Miyata, Yohane, additional, Ogawa, Chikako, additional, Maki, Yuki, additional, Togashi, Noriko, additional, Ishikura, Teruyuki, additional, Kinoshita, Makoto, additional, Mitani, Yusuke, additional, Kanemura, Yonehiro, additional, Omi, Tsuyoshi, additional, Ando, Naoki, additional, Hattori, Ayako, additional, Saitoh, Shinji, additional, Kitai, Yukihiro, additional, Hirai, Satori, additional, Arai, Hiroshi, additional, Ishida, Fumihiko, additional, Taniguchi, Hidetoshi, additional, Kitabatake, Yasuji, additional, Ozono, Keiichi, additional, Nabatame, Shin, additional, Smigiel, Robert, additional, Kato, Mitsuhiro, additional, Tanda, Koichi, additional, Saito, Yoshihiko, additional, Ishiyama, Akihiko, additional, Noguchi, Yushi, additional, Miura, Mazumi, additional, Nakano, Takaaki, additional, Hirano, Keiko, additional, Honda, Ryoko, additional, Kuki, Ichiro, additional, Takanashi, Jun-ichi, additional, Takeuchi, Akihito, additional, Fukasawa, Tatsuya, additional, Seiwa, Chizuru, additional, Harada, Atsuko, additional, Yachi, Yusuke, additional, Higashiyama, Hiroyuki, additional, Terashima, Hiroshi, additional, Kumagai, Tadayuki, additional, Hada, Satoshi, additional, Abe, Yoshiichi, additional, Miyagi, Etsuko, additional, Uchiyama, Yuri, additional, Fujita, Atsushi, additional, Imagawa, Eri, additional, Azuma, Yoshiteru, additional, Hamanaka, Kohei, additional, Koshimizu, Eriko, additional, Mitsuhashi, Satomi, additional, Mizuguchi, Takeshi, additional, Takata, Atsushi, additional, Miyake, Noriko, additional, Tsurusaki, Yoshinori, additional, Doi, Hiroshi, additional, Nakashima, Mitsuko, additional, Saitsu, Hirotomo, additional, and Matsumoto, Naomichi, additional

Published
2020
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7. Clinical and genetic characteristics of patients with Doose syndrome

Author

Hinokuma, Nodoka, primary, Nakashima, Mitsuko, additional, Asai, Hideyuki, additional, Nakamura, Kazuyuki, additional, Akaboshi, Shinjiro, additional, Fukuoka, Masataka, additional, Togawa, Masami, additional, Oana, Shingo, additional, Ohno, Koyo, additional, Kasai, Mariko, additional, Ogawa, Chikako, additional, Yamamoto, Kazuna, additional, Okumiya, Kiyohito, additional, Chong, Pin Fee, additional, Kira, Ryutaro, additional, Uchino, Shumpei, additional, Fukuyama, Tetsuhiro, additional, Shinagawa, Tomoe, additional, Miyata, Yohane, additional, Abe, Yuichi, additional, Hojo, Akira, additional, Kobayashi, Kozue, additional, Maegaki, Yoshihiro, additional, Ishikawa, Nobutsune, additional, Ikeda, Hiroko, additional, Amamoto, Masano, additional, Mizuguchi, Takeshi, additional, Iwama, Kazuhiro, additional, Itai, Toshiyuki, additional, Miyatake, Satoko, additional, Saitsu, Hirotomo, additional, Matsumoto, Naomichi, additional, and Kato, Mitsuhiro, additional

Published
2020
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8. Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal

Author

Honda, Takeru, primary, Mitoma, Hiroshi, additional, Yoshida, Hirotaka, additional, Bando, Kyota, additional, Terashi, Hiroo, additional, Taguchi, Takeshi, additional, Miyata, Yohane, additional, Kumada, Satoko, additional, Hanakawa, Takashi, additional, Aizawa, Hitoshi, additional, Yano, Shiro, additional, Kondo, Toshiyuki, additional, Mizusawa, Hidehiro, additional, Manto, Mario, additional, and Kakei, Shinji, additional

Published
2020
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9. Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia

Author

Hasegawa, Setsuko, primary, Kumada, Satoko, additional, Tanuma, Naoyuki, additional, Tsuji-Hosokawa, Atsumi, additional, Kashimada, Ayako, additional, Mizuno, Tomoko, additional, Moriyama, Kengo, additional, Sugawara, Yuji, additional, Shirai, Ikuko, additional, Miyata, Yohane, additional, Nishida, Hiroya, additional, Mashimo, Hideaki, additional, Hasegawa, Takeshi, additional, Hosokawa, Takatoshi, additional, Hisakawa, Hiroaki, additional, Uematsu, Mitsugu, additional, Fujine, Akio, additional, Miyata, Rie, additional, Sakuma, Hiroshi, additional, Kashimada, Kenichi, additional, Imai, Kohsuke, additional, Morio, Tomohiro, additional, Hayashi, Masaharu, additional, Mizutani, Shuki, additional, and Takagi, Masatoshi, additional

Published
2019
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12. Prenatal clinical manifestations in individuals with COL4A1/2variants

Author

Itai, Toshiyuki, Miyatake, Satoko, Taguri, Masataka, Nozaki, Fumihito, Ohta, Masayasu, Osaka, Hitoshi, Morimoto, Masafumi, Tandou, Tomoko, Nohara, Fumikatsu, Takami, Yuichi, Yoshioka, Fumitaka, Shimokawa, Shoko, Okuno-Yuguchi, Jiu, Motobayashi, Mitsuo, Takei, Yuko, Fukuyama, Tetsuhiro, Kumada, Satoko, Miyata, Yohane, Ogawa, Chikako, Maki, Yuki, Togashi, Noriko, Ishikura, Teruyuki, Kinoshita, Makoto, Mitani, Yusuke, Kanemura, Yonehiro, Omi, Tsuyoshi, Ando, Naoki, Hattori, Ayako, Saitoh, Shinji, Kitai, Yukihiro, Hirai, Satori, Arai, Hiroshi, Ishida, Fumihiko, Taniguchi, Hidetoshi, Kitabatake, Yasuji, Ozono, Keiichi, Nabatame, Shin, Smigiel, Robert, Kato, Mitsuhiro, Tanda, Koichi, Saito, Yoshihiko, Ishiyama, Akihiko, Noguchi, Yushi, Miura, Mazumi, Nakano, Takaaki, Hirano, Keiko, Honda, Ryoko, Kuki, Ichiro, Takanashi, Jun-ichi, Takeuchi, Akihito, Fukasawa, Tatsuya, Seiwa, Chizuru, Harada, Atsuko, Yachi, Yusuke, Higashiyama, Hiroyuki, Terashima, Hiroshi, Kumagai, Tadayuki, Hada, Satoshi, Abe, Yoshiichi, Miyagi, Etsuko, Uchiyama, Yuri, Fujita, Atsushi, Imagawa, Eri, Azuma, Yoshiteru, Hamanaka, Kohei, Koshimizu, Eriko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Tsurusaki, Yoshinori, Doi, Hiroshi, Nakashima, Mitsuko, Saitsu, Hirotomo, and Matsumoto, Naomichi

Abstract

BackgroundVariants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2variants remain unclear.MethodsWe examined COL4A1/2in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2variants, we focused on individuals showing prenatal abnormal ultrasound findings and validated their prenatal and postnatal clinical features in detail.ResultsPathogenic COL4A1/2variants were detected in 56 individuals (n=56/218, 25.7%) showing porencephaly (n=29), schizencephaly (n=12) and others (n=15). Thirty-four variants occurred de novo (n=34/56, 60.7%). Foetal information was available in 47 of 56 individuals, 32 of whom (n=32/47, 68.1%) had one or more foetal abnormalities. The median gestational age at the detection of initial prenatal abnormal features was 31 weeks of gestation. Only 14 individuals had specific prenatal findings that were strongly suggestive of features associated with COL4A1/2variants. Foetal ventriculomegaly was the most common initial feature (n=20/32, 62.5%). Posterior fossa abnormalities, including Dandy-Walker malformation, were observed prenatally in four individuals. Regarding extrabrain features, foetal growth restriction was present in 16 individuals, including eight individuals with comorbid ventriculomegaly.ConclusionsPrenatal observation of ventriculomegaly with comorbid foetal growth restriction should prompt a thorough ultrasound examination and COL4A1/2gene testing should be considered when pathogenic variants are strongly suspected.

Published
2021
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13. An atypical case of KMT2B‐related dystonia manifesting asterixis and effect of deep brain stimulation of the globus pallidus.

Author

Miyata, Yohane, Hamanaka, Kohei, Kumada, Satoko, Uchino, Shumpei, Yokochi, Fusako, Taniguchi, Makoto, Miyatake, Satoko, and Matsumoto, Naomichi

Subjects
*DEEP brain stimulation, *MOVEMENT disorders, *DYSTONIA, *MYOCLONUS
Abstract

We present a boy with KMT2B‐related dystonia (DYT‐KMT2B), a recently identified early‐onset generalized dystonia. He manifested prominent asterixis, which improved following bilateral globus pallidus interna deep brain stimulation (GPi‐DBS). Although variable involuntary movements, including myoclonus and tremor, can be seen in patients with DYT‐KMT2B, asterixis has not been reported. This is also the first report which shows the beneficial effect of bilateral GPi‐DBS for asterixis, suggesting that dysfunction of the cortico‐basal ganglia‐thalamo‐cortical circuit may be involved in its pathomechanism. [ABSTRACT FROM AUTHOR]

Published
2020
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15. Factors associated with antisocial behavior in patients with developmental disorder.

Author

Nakamura Y, Shimazaki M, Komatsu Y, Nakano Y, Matsuoka Y, Miyata, and Oka A

Subjects
Adolescent, Child, Child, Preschool, Female, Humans, Male, Social Behavior, Antisocial Personality Disorder, Developmental Disabilities
Abstract

Objective: This study investigated the factors associated with antisocial behavior (AB) in children with developmental disorder and effective treatments. Methods: Participants were 110 schoolchildren with developmental disorder and with or without accompanying AB who visited our hospital between October 2009 and October 2012. Among the children with AB, those who exhibited one or more symptoms of conduct disorder (CD) were assigned to the CD subgroup. We examined the background characteristics, past history, type of antisocial behavior, and symptom improvement after treatment in the children with AB and compared the relevant factors with children with developmental disorder without AB. Results: Of the 110 participants, 72 (65.5%) did not exhibit AB and 38 (34.5%) did, 7 (5.5%) of whom fulfilled the criteria for CD. Compared to the children without AB, the children with AB showed a significantly higher occurrence of attention deficit/hyperactivity disorder (AD/HD), maltreatment, institutionalization due to maltreatment, parental mental/psychological problems, and family instability. After medical treatment combined with social-skills training and parental education, 22 of the 38 children with AB showed improved behavior. In the CD subgroup, 4 children were diagnosed with AD/HD and 3 with pervasive developmental disorder, and none of the 7 improved with treatment. Conclusion: AB was associated with AD/HD, maltreatment, institutionalization, parental mental/psychological problems, and family instability. The most effective therapy was parental education. Children with AB need early intervention given that those who already exhibited symptoms of CD showed little improvement with treatment.

Published
2016

16. [Nonconvulsive status epilepticus as an initial symptom in a boy with frontal lobe epilepsy].

Author

Miyata Y, Shimazaki M, Komatsu Y, Nakamura Y, and Oka A

Subjects
Anticonvulsants therapeutic use, Child, Diazepam therapeutic use, Electroencephalography, Epilepsy, Frontal Lobe drug therapy, Epilepsy, Frontal Lobe physiopathology, Humans, Male, Treatment Outcome, Epilepsy, Frontal Lobe complications, Status Epilepticus etiology
Abstract

An 11-year-old boy, who had no remarkable past history, exhibited disorientation and abnormal behavior lasting for several hours. Continuous ictal discharges on his EEG lead to the diagnosis of nonconvulsive status epilepticus (NCSE). The administration of diazepam instantly resulted in the cessation of ictal discharges, associated with clinical recovery. Interictal spikes distributed in frontal lobes are sporadically seen, suggesting frontal lobe as an epileptic focus. After starting medication, he showed excellent clinical course without recurrence of seizure or neurological sequelae. Although NCSE is generally suggestive of poor prognosis, some subtypes of NCSE, such as partial status epilepticus and absence status epilepticus, are not always associated with adverse outcome. The present case suggests that epileptic patients who present NCSE at onset and lack interictal neurological impairments might have good outcome.

Published
2014

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