Carla Marini

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

Robyn H. Wallace, Carla Marini, Steven Petrou et al. · Nature Genetics · 2001 · 782 citations

Medicine, Neurology, Neuroscience +16

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 303 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Early and effective treatment of <i> <scp>KCNQ</scp> 2 </i> encephalopathy

Tiziana Pisano, Adam L. Numis, Sinéad B. Heavin et al. · Epilepsia · 2015 · 294 citations · Full text

Medicine, Neurology, Pharmacotherapy +17

The phenotypic spectrum of <i>SCN8A</i> encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella et al. · Neurology · 2015 · 285 citations · Full text

Medicine, Genetics, Neurology +17

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

Samuel F. Berkovic, Sarah E. Heron, Lucio Giordano et al. · Annals of Neurology · 2004 · 276 citations

Life Sciences, Genetics, Neurology +17