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

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

Source: Brain & development. 43(8):873-878

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Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

Authors: Suzuki-Muromoto, Sato, Kosaki, Rika, Kosaki, Kenjiro, Kubota, Masaya

Source: Brain & development. 42(3):293-297

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Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome

Authors: 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, Haginoya, Kazuhiro

Source: Journal of human genetics. 64(5):499-504

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A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Authors: 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, Haginoya, Kazuhiro

Source: Journal of human genetics. 63(6):749-753

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125123435.0x000001&indx=1&recIds=ETOCvdc_100125123435.0x000001

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

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

Source: Brain & development. 40(1):16-25

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100067896535.0x000001&indx=1&recIds=ETOCvdc_100067896535.0x000001

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

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

Source: Brain & development. 40(4):334-338

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100057665434.0x000001&indx=1&recIds=ETOCvdc_100057665434.0x000001

Efficacy of vigabatrin therapy for tuberous sclerosis with infantile spasms

Authors: Suzuki-Muromoto, Sato, Uematsu, Mitsugu, Sato, Hiroki, Sato, Yuko, Numata-Uematsu, Yurika, Nakayama, Tojo, Kikuchi, Atsuo, Kobayashi, Tomoko, Hino-Fukuyo, Naomi, Kure, Shigeo

Source: No to hattatsu. 48(6):413-419

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN608886563&indx=1&recIds=ETOCRN608886563

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Leucine-485 deletion variant of BRAFmay exhibit the severe end of the clinical spectrum of CFC syndrome

Authors: 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, Haginoya, Kazuhiro

Source: Journal of Human Genetics; May 2019, Vol. 64 Issue: 5 p499-504, 6p

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A case of new PCDH12gene variants presented as dyskinetic cerebral palsy with epilepsy

Authors: 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, Haginoya, Kazuhiro

Source: Journal of Human Genetics; June 2018, Vol. 63 Issue: 6 p749-753, 5p