Zaid Afawi

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle et al. · Nature Genetics · 2013 · 694 citations · Full text

Life Sciences, Genetics, Neuroscience +14

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Leanne M. Dibbens, Patrick Tarpey, Kim Hynes et al. · Nature Genetics · 2008 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E. Heron, Katherine R. Smith, Melanie Bahlo et al. · Nature Genetics · 2012 · 412 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

Arvid Suls, Peter Dedeken, Karolien Goffin et al. · Brain · 2008 · 340 citations · Full text

Medicine, Genetics, Neurology +17

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