Edith Said

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F. Berkovic, Leanne M. Dibbens et al. · Nature Genetics · 2014 · 315 citations · Full text

Medicine, Genetics, Molecular Genetics +12

<i>EPG5</i> -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Susan Byrne, Jean-Marie U-King-Im, Ata Siddiqui et al. · Brain · 2016 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen Oliver, Eon Joo Park et al. · The American Journal of Human Genetics · 2021 · 86 citations · Full text

Medicine, Genetics, Neurology +17

Screening of ARHSP-TCC patients expands the spectrum of<i>SPG11</i>mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali et al. · Human Mutation · 2008 · 61 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Vici syndrome—A rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy

Edith Said, Doriette Soler, Caroline A. Sewry · American Journal of Medical Genetics Part A · 2011 · 32 citations

Medicine, Neurology, Pediatrics +12