Ian Andrews

Rare copy number variants are an important cause of epileptic encephalopathies

Heather C. Mefford, Simone C. Yendle, Cynthia L. Hsu et al. · Annals of Neurology · 2011 · 246 citations

Medicine, Genetics, Neurology +17

Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies

Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen et al. · Epilepsia · 2015 · 150 citations · Full text

Medicine, Genetics, Neurology +17

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

Slavé Petrovski, Sébastien Küry, Candace T. Myers et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Elizabeth E. Palmer, Deborah Schofield, Rupendra Shrestha et al. · Molecular Genetics & Genomic Medicine · 2018 · 113 citations · Full text

Medicine, Genetics, Neurology +13

<i>PRRT2</i> phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E. Scheffer, Bronwyn E. Grinton, Sarah E. Heron et al. · Neurology · 2012 · 84 citations

Medicine, Genetics, Neurology +17