The 60th Annual Meeting of the Japanese Society of Child Neurology

Presentation information

Oral Presentation

Hereditary disorder/Chromosomal aberration

[O4] Hereditary disorder/Chromosomal aberration

Thu. May 31, 2018 2:30 PM - 3:30 PM Room 7 (3F 304)

Chair: Takeo Kubota(Faculty of Child Studies, Seitoku University), Yamamoto-Shimojima Keiko(Institute of Medical Genetics, Tokyo Women's Medical University)

[O-020] Clinical, genetic, and biochemical analyses for PI3K—AKT—mTOR pathway—associated megalencephaly

Ikumi Hori1, Fuyuki Miya2,3, YUJI NAKAMURA1, DAISUKE IEDA1, YUTAKA NEGISHI1, AYAKO HATTORI1, TATSUHIKO TSUNODA2,3, YONEHIRO KANEMURA4,5, KENJIRO KOSAKI6, SHINJI SAITOH1 (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 2.Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan, 3.Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan, 4.Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan)

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