Michela De Maria

Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of K _v 7.2 and K _v 7.3 Potassium Channel Subunits

Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino et al. · Journal of Neuroscience · 2015 · 194 citations · Full text

Medicine, Neurology, Neuroscience +17

Infantile spasms and encephalopathy without preceding neonatal seizures caused by <i>KCNQ2</i> R198Q, a gain‐of‐function variant

J Gordon Millichap, Francesco Miceli, Michela De Maria et al. · Epilepsia · 2016 · 105 citations · Full text

Medicine, Molecular Genetics, Neurology +17

Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh et al. · Human Mutation · 2013 · 97 citations

Life Sciences, Genetics, Molecular Genetics +17

Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca et al. · Scientific Reports · 2016 · 50 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin

Paolo Ambrosino, Alessandro Alaimo, Silvia Bartollino et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2015 · 46 citations · Full text

Medicine, Neurology, Neuroscience +16