Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria

Junji Takeda, Toshio Miyata, Kazuyoshi Kawagoe et al. · Cell · 1993 · 1K citations

Life Sciences, Genetics, Hematology +9

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

Jennifer J. Johnston, Andrea Gropman, Julie C. Sapp et al. · The American Journal of Human Genetics · 2012 · 160 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in <i>PIGW</i> is associated with West syndrome and hyperphosphatasia with mental retardation syndrome

Tomohiro Chiyonobu, Norimitsu Inoue, Masafumi Morimoto et al. · Journal of Medical Genetics · 2013 · 107 citations

Medicine, Genetics, Molecular Genetics +17

<i>PIGA</i> mutations cause early-onset epileptic encephalopathies and distinctive features

Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami et al. · Neurology · 2014 · 104 citations

Medicine, Genetics, Molecular Genetics +17

The genotypic and phenotypic spectrum of PIGA deficiency

Maja Tarailo‐Graovac, Graham Sinclair, Sylvia Stöckler‐Ipsiroglu et al. · Orphanet Journal of Rare Diseases · 2015 · 87 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17