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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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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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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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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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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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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Expanding the phenotype of COL4A1-related disorders—Four novel variants von Nishimura, Naoto, Kumaki, Tatsuro, Murakami, Hiroaki, Enomoto, Yumi, Tsurusaki, Yoshinori, Tsuji, Megumi, Tsuyusaki, Yu, Goto, Tomohide, Aida, Noriko, Kurosawa, Kenji

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Aggregate formation analysis of GFAPR416W found in one case of Alexander disease von Tulyeu, Janyerkye, Tamaura, Moe, Jimbo, Eriko, Shimbo, Hiroko, Takano, Kyoko, Iai, Mizue, Yamashita, Sumimasa, Goto, Tomohide, Aida, Noriko, Tokuhiro, Etsuro, Yamagata, Takanori, Osaka, Hitoshi

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Japanese Leigh syndrome case treated with EPI-743 von Kouga, Takeshi, Takagi, Mariko, Miyauchi, Akihiko, Shimbo, Hiroko, Iai, Mizue, Yamashita, Sumimasa, Murayama, Kei, Klein, Matthew B., Miller, Guy, Goto, Tomohide, Osaka, Hitoshi

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Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz-Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles von Yamashita, Yuri, Nakada, Satoshi, Nakamura, Kyoko, Sakurai, Hidetoshi, Ohno, Kinji, Goto, Tomohide, Mabuchi, Yo, Akazawa, Chihiro, Hattori, Nobutaka, Arikawa-Hirasawa, Eri

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Dopamine Modulates Cell Cycle in the Lateral Ganglionic Eminence von Ohtani, Nobuyo, Goto, Tomohide, Waeber, Christian, Bhide, Pradeep G

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Discordant phenotype caused by CASK mutation in siblings with NF1 von Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji

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Afebrile seizures associated with respiratory syncytial virus infection: A situation‐related seizure disorder in early infancy von Miyama, Sahoko, Goto, Tomohide

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Efficacy of long‐term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series von Baba, Shimpei, Okanishi, Tohru, Homma, Yoichiro, Yoshida, Takeshi, Goto, Tomohide, Fukasawa, Tatsuya, Kobayashi, Satoru, Kamei, Atsushi, Fujii, Yuji, Hino‐Fukuyo, Naomi, Yamada, Keitaro, Daida, Atsuro, Kawawaki, Hisashi, Hoshino, Hideki, Sejima, Hitoshi, Ishida, Yusuke, Okazaki, Tetsuya, Inui, Takehiko, Kanai, Sotaro, Motoi, Hirotaka, Itamura, Shinji, Nishimura, Mitsuyo, Enoki, Hideo, Fujimoto, Ayataka

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