[SY20] Symposium 20
Recent insights about genetic causes of neurodevelopmental and muscular disorders

Sat. Jun 2, 2018 10:10 AM - 12:10 PM Room 2 (International Conference Room)

Chair:Hirotomo Saitsu(Hamamatsu University School of Medicine), Mitsuhiro Kato(Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan)

【企画・趣旨のねらい】
　近年の次世代シークエンス解析の普及により，これまで不明であった小児神経疾患における原因遺伝子変異の同定が進み，原因遺伝子変異に基づいた新しい疾患体系の確立・再編がなされてきております．本シンポジウムでは，加速する小児神経疾患の遺伝要因の解明に関して，大脳白質変性症，乳幼児てんかん性脳症，ネマリンミオパチー，巨脳症における最新の知見についてご紹介いただきます．

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[SY20-1] 1）Collaboration between neuroradiologyand molecular genetics；SNORD118, POLR3A／3B, TUBB4A associatedleukoencephalopathies

Jun—ichi Takanashi (Department of Pediatrics, Tokyo Women's Medical University Yachiyo Medical Center, Yachiyo, Japan)

[SY20-2] 2）Molecular mechanism of developmental and epileptic encephalopathy: update

Mitsuhiro Kato (Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan)

[SY20-3] 3） MYPN—related nemaline myopathy

Satoko Miyatake (Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan)

[SY20-4] 4）PI3K—AKT—mTOR pathway—associated megalencephaly

Shinji Saitoh (Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya , Japan.)