Guidelines for the diagnosis and treatment of acute encephalopathy in childhood von Mizuguchi, Masashi, Ichiyama, Takashi, Imataka, George, Okumura, Akihisa, Goto, Tomohide, Sakuma, Hiroshi, Takanashi, Jun-ichi, Murayama, Kei, Yamagata, Takanori, Yamanouchi, Hideo, Fukuda, Tokiko, Maegaki, Yoshihiro

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Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy von 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, Matsumoto, Naomichi

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Epidemiological changes of acute encephalopathy in Japan based on national surveillance for 2014–2017 von Kasai, Mariko, Shibata, Akiko, Hoshino, Ai, Maegaki, Yoshihiro, Yamanouchi, Hideo, Takanashi, Jun-ichi, Yamagata, Takanori, Sakuma, Hiroshi, Okumura, Akihisa, Nagase, Hiroaki, Ishii, Atsushi, Goto, Tomohide, Oka, Akira, Mizuguchi, Masashi

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Cyclocreatine Transport by SLC6A8, the Creatine Transporter, in HEK293 Cells, a Human Blood-Brain Barrier Model Cell, and CCDSs Patient-Derived Fibroblasts von Uemura, Tatsuki, Ito, Shingo, Masuda, Takeshi, Shimbo, Hiroko, Goto, Tomohide, Osaka, Hitoshi, Wada, Takahito, Couraud, Pierre-Olivier, Ohtsuki, Sumio

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Atypical clinical course in two patients with GNB1 variants who developed acute encephalopathy von Tsuji, Megumi, Ikeda, Azusa, Tsuyusaki, Yu, Iai, Mizue, Kurosawa, Kenji, Kosaki, Kenjiro, Goto, Tomohide

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Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay von Kumaki, Tatsuro, Enomoto, Yumi, Aida, Noriko, Goto, Tomohide, Kurosawa, Kenji

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Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan von Ikeda, Azusa, Tsuji, Megumi, Goto, Tomohide, Iai, Mizue

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Recurrent pulmonary hemorrhage in juvenile patients with KCNT1 mutation von Ikeda, Azusa, Ueda, Hideaki, Matsui, Kiyoshi, Iai, Mizue, Goto, Tomohide

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Nonsense variants in STAG2 result in distinct sex-dependent phenotypes von Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi

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Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies von Miyamoto, Sachiko, Kato, Mitsuhiro, Hiraide, Takuya, Shiohama, Tadashi, Goto, Tomohide, Hojo, Akira, Ebata, Akio, Suzuki, Manabu, Kobayashi, Kozue, Chong, Pin Fee, Kira, Ryutaro, Matsushita, Hiroko Baber, Ikeda, Hiroko, Hoshino, Kyoko, Matsufuji, Mayumi, Moriyama, Nobuko, Furuyama, Masayuki, Yamamoto, Tatsuya, Nakashima, Mitsuko, Saitsu, Hirotomo

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Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction von Anzai, Rie, Tsuji, Megumi, Yamashita, Sumimasa, Wada, Yoshinao, Okamoto, Nobuhiko, Saitsu, Hirotomo, Matsumoto, Naomichi, Goto, Tomohide

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A cluster of disseminated small cortical lesions in MELAS: its distinctive clinical and neuroimaging features von Hongo, Yu, Kaneko, Juntaro, Suga, Hiroki, Ishima, Daisuke, Kitamura, Eiji, Akutsu, Tsugio, Onozawa, Yuya, Kanazawa, Naomi, Goto, Tomohide, Nishiyama, Kazutoshi, Iizuka, Takahiro

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Late‐onset Leigh syndrome with m.9176T>C mutation in the mitochondrial ATPase 6 gene von Ichikawa, Kazushi, Tsuyusaki, Yu, Shimbo, Hiroko, Goto, Tomohide

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Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases von Shinohara, Mayu, Saitoh, Makiko, Takanashi, Jun-ichi, Yamanouchi, Hideo, Kubota, Masaya, Goto, Tomohide, Kikuchi, Masahiro, Shiihara, Takashi, Yamanaka, Gaku, Mizuguchi, Masashi

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Retrospective Echocardiographic Analysis of West Syndrome During Adrenocorticotropic Hormone Therapy von Ikuta, Yoji, Miura, Masaru, Goto, Tomohide, Miyama, Sahoko

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Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes von Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi

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Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan von Ikeda, Azusa, Kumaki, Tatsuro, Tsuyusaki, Yu, Tsuji, Megumi, Enomoto, Yumi, Fujita, Atsushi, Saitsu, Hirotomo, Matsumoto, Naomichi, Kurosawa, Kenji, Goto, Tomohide

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Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants von Kobayashi, Yu, Tohyama, Jun, Takahashi, Yukitoshi, Goto, Tomohide, Haginoya, Kazuhiro, Inoue, Takeshi, Kubota, Masaya, Fujita, Hiroshi, Honda, Ryoko, Ito, Masahiro, Kishimoto, Kanako, Nakamura, Kazuyuki, Sakai, Yasunari, Takanashi, Jun-ichi, Tanaka, Manabu, Tanda, Koichi, Tominaga, Koji, Yoshioka, Seiichiro, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

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Nonsense variants of STAG2 result in distinct congenital anomalies von Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi

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A female case of aromatic l -amino acid decarboxylase deficiency responsive to MAO-B inhibition von Kojima, Karin, Anzai, Rie, Ohba, Chihiro, Goto, Tomohide, Miyauchi, Akihiko, Thöny, Beat, Saitsu, Hirotomo, Matsumoto, Naomichi, Osaka, Hitoshi, Yamagata, Takanori

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