Giulia Barcia

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Giulia Barcia, Matthew R. Fleming, Aline Deligniere et al. · Nature Genetics · 2012 · 517 citations · Full text

Developmental Biology, Hyperpolarization (Biology), Ion Channels +5

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

H. Christian Martin, Grace Kim, A. T. Pagnamenta et al. · Human Molecular Genetics · 2014 · 255 citations · Full text

Engineering, Genetics, Disease Gene Identification +21

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

Rima Nabbout, Nicole Chémaly, Mathilde Chipaux et al. · Orphanet Journal of Rare Diseases · 2013 · 192 citations · Full text

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Xiaochang Zhang, Jiqiang Ling, Giulia Barcia et al. · The American Journal of Human Genetics · 2014 · 136 citations · Full text

Encoding Glutaminyl-trna Synthetase, Neurodegenerative Diseases, Molecular Neuroscience +12

Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

Grace Kim, Jack Kronengold, Giulia Barcia et al. · Cell Reports · 2014 · 127 citations · Full text