Elena Parrini

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 488 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +9

Somatic Mutations in Cerebral Cortical Malformations

Saumya Shekhar Jamuar, Anh-Thu N. Lam, Martin Kircher et al. · New England Journal of Medicine · 2014 · 386 citations · Full text

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Elena Parrini · Brain · 2006 · 354 citations

Brain Development, Genetics, Periventricular Heterotopia +17

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 · 298 citations · Full text

Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10

Increased Sensitivity of the Neuronal Nicotinic Receptor α2 Subunit Causes Familial Epilepsy with Nocturnal Wandering and Ictal Fear

Paolo Aridon, Carla Marini, Chiara Di Resta et al. · The American Journal of Human Genetics · 2006 · 246 citations · Full text

Nocturnal Wandering, Synaptic Plasticity, Neurobiological Mechanism +14