Aziz Mazarib

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

Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus

Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett et al. · The American Journal of Human Genetics · 2001 · 344 citations · Full text

Life Sciences, Neurology, Neuroscience +16

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

Alexander G. Bassuk, Robyn H. Wallace, Aimee C. Buhr et al. · The American Journal of Human Genetics · 2008 · 241 citations · Full text

Life Sciences, Genetics, Neurology +16

Epilepsy and mental retardation limited to females: an under-recognized disorder

Ingrid E. Scheffer, Samantha J. Turner, Leanne M. Dibbens et al. · Brain · 2008 · 193 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17