Suzanne D. DeBrosse

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang et al. · Molecular Genetics and Metabolism · 2012 · 117 citations

Life Sciences, Neurology, Neuroscience +14

Mutations in<i>SCN3A</i>cause early infantile epileptic encephalopathy

Tariq Zaman, Ingo Helbig, Ivana Babič Božović et al. · Annals of Neurology · 2018 · 97 citations

Life Sciences, Genetics, Neuroscience +17

<i>GABBR2</i> mutations determine phenotype in rett syndrome and epileptic encephalopathy

Yongjin Yoo, Jane Jung, Yoo‐Na Lee et al. · Annals of Neurology · 2017 · 85 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Louis Viollet, Gustavo Glusman, Kelley J. Murphy et al. · PLoS ONE · 2015 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Sylvia Stöckler‐Ipsiroglu, Delia Apatean, Roberta Battini et al. · Molecular Genetics and Metabolism · 2015 · 67 citations · Full text

Life Sciences, Molecular Genetics, Neurology +17