Article
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
Brain & development - 1 Oct 2018
Sato Tatsuharu, Kato Mitsuhiro, Moriyama Kaoru, Haraguchi Kohei, Saitsu Hirotomo, Matsumoto Naomichi, Moriuchi Hiroyuki
Abstract excerpt
BACKGROUND: Tubulinopathies include a wide spectrum of disorders ranging from abnormal ocular movement to severe brain malformations, and typically present as diffuse agyria or perisylvian pachygyria with microcephaly, agenesis of the corpus callosum, and cerebellar hypoplasia. They are caused by the dysfunction of tubulins encoded by tubulin-related genes, and the TUBA1A gene encoding alpha-1A tubulin is most...
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