臨床検査58巻9号

2014年09月発行

今月の特集2 てんかんと臨床検査のかかわり

てんかんと遺伝

著者： 山川和弘¹

所属機関： ¹理化学研究所　脳科学総合研究センター神経遺伝研究チーム

ページ範囲：P.1079 - P.1084

●てんかんは遺伝的背景の寄与の大きい疾患であるが，浸透率の低さや新生変異などにより認識されにくい．

●多くのてんかん原因遺伝子が同定されている．

●変異導入てんかんモデル動物の解析により，発症機構が明らかにされつつある．

参考文献

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