Michael S Nahorski   Masato Asai   Emma Wakeling   Alasdair Parker   Naoya Asai   Natalie Canham   Susan E Holder   Ya-Chun Chen   Joshua Dyer   Angela F Brady   Masahide Takahashi   C Geoffrey Woods   
Brain : a journal of neurology 139(Pt 4) 1036-44 2016年4月 [査読有り]
Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. At...