[O20] Epilepsy/Convulsion Diagnosis/Gene

Fri. Jun 1, 2018 1:30 PM - 2:30 PM Room 7 (3F 304)

Chair:JUN TOHYAMA(Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Niigata, Japan), Yasunari Sakai(Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University)

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[O-106] Caracteristics of epileptic sezures with CDKL5 mutation

Keiko Morioka¹, YUKITOSHI TAKAHASHI¹ (1.Shizuoka institute of Epilepsy and Neurological Disorders, Shizuoka,Japan, 2.Showa University,Tokyo,Japan, 3.Tokyo women's medical university,Tokyo,Japan)

[O-107] Two intractable epilepsy cases with truncating mutation in IQSEC2

Tomoko Nagase¹, Yukitoshi Takahashi¹, Tokito Yamaguchi¹, Yushi Inoue¹, Toshimitsu Suzuki², Kazuhiro Yamakawa², Mitsuhiro Kato³ (1.Department of Pediatrics, National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka, Japan, 2.RIKEN Brain Science Institute Laboratory for Neurogenetics, Saitama, Japan, 3.Department of Pediatrics Showa University School of Medicine, Tokyo, Japan)

[O-108] Two Japanese cases of epileptic encephalopathy with FGF12 mutation

Ryo Takeguchi¹, TAKEHIKO INUI², KAZUHIRO HAGINOYA², MICHIAKI NAGURA³, ERI TAKESHITA¹, TAKASHI SAITO¹, EIJI NAKAGAWA¹, KENJI SUGAI¹, MASAYUKI SASAKI¹, YURI UCHIYAMA⁴, ATSUSHI FUJITA⁴, MITSUKO NAKASHIMA⁴, HIROTOMO SAITSU⁴, NAOMICHI MATSUMOTO⁴ (1.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Neurology, Miyagi Children's Hospital, Miyagi, Japan, 3.Department of Pediatrics, Saitama Medical Center, Saitama, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan)

[O-109] Three patients with excessive X—chromosomes complicated with focal epilepsy

Mayuko Shirakura¹, Yasushi Ito^1,3, Eriko Mizoguchi¹, Kaori Kawano¹, Nozomi Ishii¹, Kazuhiko Kabe², Hirokazu Oguni³, Satoru Nagata³ (1.The Department of Pediatrics, Aiiku Hospital, Maternal and Child Health Center, 2.The Department of Pediatrics, Aiiku Clinic, Maternal and Child Health Center, Tokyo JAPAN, 3.The Department of Pediatrics, Tokyo Womens Medical University, School of Medicine, Tokyo JAPAN)

[O-110] The efficacy of gabapentin in a girl with early—onset epilepsy demonstrating severe hypertonus

Yugo Tsukada¹, RYUTA TANAKA¹, FUJIKO FUKUSHIMA¹, RYUTARO SUZUKI¹, TAKURO SATO¹, ISHO IZUMI¹, SHOHEI KUSABIRAKI², TAKASHI SAITO², GAKU MINASE³, SATOKO MIYATAKE³, NAOMICHI MATSUMOTO³, MITSUHIRO KATO⁴ (1.The Department of Pediatrics, Ibaraki Children's Hospital, Mito, Japan, 2.Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan, 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4.Department of Pediatrics, Faculty of Medicine, Showa University, Tokyo, Japan)

[O-111] Comparison of clinical features between Panayiotopoulos syndrome and acute encephalopathy

Saori Kawakami¹, Hiroshi Terashima², Akira Ishiguro¹, Masaya Kubota² (1.Department Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Neurology, National Center for Child Health and Development, Tokyo, Japan)