Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly by Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori, Masahide Goto, Toshihiro Tajima, Aiko Sasaki, Takayoshi Matsumura, Takanori Yamagata

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Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene by Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku

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Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations by Noriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, Kumihiro Matsuo, Masahide Nakajima, Kazuhiro Tomizawa, Yusuke Tanahashi, Toshihiro Tajima

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An unstable variant of GAP43 leads to neurodevelopmental deficiency by Mariko Noda, Ayumi Matsumoto, Hidenori Ito, Masayo Kagami, Toshihiro Tajima, Takayoshi Matsumura, Takanori Yamagata, Koh-ichi Nagata

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Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term by Hirokazu Yamagishi, Hitoshi Osaka, Kazuhiro Muramatsu, Karin Kojima, Yukifumi Monden, Tadahiro Mitani, Yuta Asakura, Keizo Wakae, Kohei Nagai, Toshihiro Tajima

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