ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice von Aoto, Kazushi, Kato, Mitsuhiro, Akita, Tenpei, Nakashima, Mitsuko, Mutoh, Hiroki, Akasaka, Noriyuki, Tohyama, Jun, Nomura, Yoshiko, Hoshino, Kyoko, Ago, Yasuhiko, Tanaka, Ryuta, Epstein, Orna, Ben-Haim, Revital, Heyman, Eli, Miyazaki, Takehiro, Belal, Hazrat, Takabayashi, Shuji, Ohba, Chihiro, Takata, Atsushi, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo

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High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders von Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Akasaka, Noriyuki, Magara, Shinichi, Kawashima, Hideshi, Ohashi, Tsukasa, Shiraishi, Hideaki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

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The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus von Kobayashi, Yu, Tohyama, Jun, Akasaka, Noriyuki, Yamada, Kei, Hojo, Moemi, Seki, Eijun, Miura, Masaki, Soma, Noriko, Ono, Takeshi, Kato, Mitsuhiro, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

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Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency von Kobayashi, Yu, Tohyama, Jun, Akiyama, Tomoyuki, Magara, Shinichi, Kawashima, Hideshi, Akasaka, Noriyuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi

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Gómez–López-Hernández syndrome in a Japanese patient: A case report von Kobayashi, Yu, Kawashima, Hideshi, Magara, Shinichi, Akasaka, Noriyuki, Tohyama, Jun

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Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2 von Kobayashi, Yu, Ohashi, Tsukasa, Akasaka, Noriyuki, Tohyama, Jun

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Rub epilepsy in an infant with Turner syndrome von Magara, Shin-ichi, Kawashima, Hideshi, Kobayashi, Yu, Akasaka, Noriyuki, Yamazaki, Sawako, Tohyama, Jun

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Temporal changes in brain MRI findings in Rasmussen syndrome von Yamazaki, Etsuko, Takahashi, Yukitoshi, Akasaka, Noriyuki, Fujiwara, Tateki, Inoue, Yushi

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Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter von Tohyama, Jun, Akasaka, Noriyuki, Osaka, Hitoshi, Maegaki, Yoshihiro, Kato, Mitsuhiro, Saito, Naka, Yamashita, Sumimasa, Ohno, Kousaku

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Nationwide survey (incidence, clinical course, prognosis) of Rasmussen’s encephalitis von Muto, Ayako, Oguni, Hirokazu, Takahashi, Yukitoshi, Shirasaka, Yukiyoshi, Sawaishi, Yukio, Yano, Tamami, Hoshida, Toru, Osaka, Hitoshi, Nakasu, Satoru, Akasaka, Noriyuki, Sugai, Kenji, Miyamoto, Akie, Takahashi, Satoru, Suzuki, Motomasa, Ohmori, Iori, Nabatame, Shin, Osawa, Makiko

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Refractory Infantile Spasms Associated With Mosaic Variegated Aneuploidy Syndrome von Akasaka, Noriyuki, MD, Tohyama, Jun, MD, Ogawa, Atsushi, MD, Takachi, Takayuki, MD, Watanabe, Akihiro, MD, Asami, Keiko, MD

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Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy von Kumada, Tomohiro, Ito, Masatoshi, Miyajima, Tomoko, Fujii, Tatsuya, Okuno, Takehiko, Go, Toshin, Hattori, Haruo, Yoshioka, Mieko, Kobayashi, Kenichiro, Kanazawa, Osamu, Tohyama, Jun, Akasaka, Noriyuki, Kamimura, Takanori, Sasagawa, Mutsuo, Amagane, Hideki, Mutoh, Kozo, Yamori, Yuriko, Kanda, Toyoko, Yoshida, Naoko, Hirota, Haruyo, Tanaka, Rieko, Hamada, Yasushi

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A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome) von Kato, Mitsuhiro, Saitoh, Shinji, Kamei, Atsushi, Shiraishi, Hideaki, Ueda, Yuki, Akasaka, Manami, Tohyama, Jun, Akasaka, Noriyuki, Hayasaka, Kiyoshi

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Brain Maturation-Related Spike Localization in Panayiotopoulos Syndrome: Magnetoencephalographic Study von Saito, Naka, MD, Kanazawa, Osamu, MD, Tohyama, Jun, MD, Akasaka, Noriyuki, MD, Kamimura, Takanori, MD, Toyabe, Shin-ichi, MD, Uchiyama, Makoto, MD

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Megalencephaly and Polymicrogyria with Polydactyly Syndrome von Tohyama, Jun, MD, Akasaka, Noriyuki, MD, Saito, Naka, MD, Yoshimura, Junichi, MD, Nishiyama, Kenichi, MD, Kato, Mitsuhiro, MD

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Magnetoencephalographic Findings of Panayiotopoulos Syndrome With Frontal Epileptic Discharges von Saitoh, Naka, MD, Kanazawa, Osamu, MD, PhD, Tohyama, Jun, MD, PhD, Akasaka, Noriyuki, MD, Kamimura, Takanori, MD

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Vaccination and infection as causative factors in Japanese patients with Rasmussen syndrome: molecular mimicry and HLA class I von Takahashi, Yukitoshi, Matsuda, Kazumi, Kubota, Yuko, Shimomura, Jiro, Yamasaki, Etsuko, Kudo, Tatsuya, Fukushima, Katsuyuki, Osaka, Hitoshi, Akasaka, Noriyuki, Imamura, Atsushi, Yamada, Shinji, Kondo, Naomi, Fujiwara, Tateki

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West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14 von Tohyama, Jun, Yamamoto, Toshiyuki, Hosoki, Kana, Nagasaki, Keisuke, Akasaka, Noriyuki, Ohashi, Tsukasa, Kobayashi, Yu, Saitoh, Shinji

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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation von Ohashi, Tsukasa, Akasaka, Noriyuki, Kobayashi, Yu, Magara, Shinichi, Kawashima, Hideshi, Matsumoto, Naomichi, Saitsu, Hirotomo, Tohyama, Jun

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Study of Similarity Law between Electric-Motor Driven Injection Molding Machine and Simulator at Injection Velocity Control von AKASAKA, Noriyuki

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