Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

…, C Li, JH Livingston, CM Lourenço, MM Mancardi… - Nature …, 2014 - nature.com
… MgCl 2 and 2 mM DTT) in the presence or absence of 2 mM ATP, and complexes were
analyzed on Bis-Tris NativePAGE (Life Technologies). Fluorescent gel images were recorded …

Ketamine as advanced second‐line treatment in benzodiazepine‐refractory convulsive status epilepticus in children

…, J Tibaldi, G Brisca, A Riva, P Striano, MM Mancardi… - …, 2023 - Wiley Online Library
Status epilepticus (SE) is one of the most common neurological emergencies in children. To
date, there is no definitive evidence to guide treatment of SE refractory to benzodiazepines. …

[PDF][PDF] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

…, M Iacomino, F Madia, MS Vari, MM Mancardi… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …

TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

…, BG Stražišar, JL Holder Jr, G Lesca, MM Mancardi… - Neurology, 2016 - AAN Enterprises
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported …

Treatment of MOG antibody associated disorders: results of an international survey

…, M Tintore, MP Amato, M Nosadini, MM Mancardi… - Journal of …, 2020 - Springer
Introduction While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein
antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus …

[HTML][HTML] Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder

…, MMU Rehman, C Al Alam, G Nader, MM Mancardi… - Human Genetics, 2023 - Springer
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic
type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. …

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

…, B Castellotti, C Gellera, R Milanesi, MM Mancardi… - Brain, 2018 - academic.oup.com
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal
excitability and their dysfunction has been linked to epileptogenesis but few individuals with …

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

…, C Ciampa, N Specchio, F Ragona, MM Mancardi… - Neurology, 2007 - AAN Enterprises
Objective: To conduct an open-label, add-on trial on safety and efficacy of levetiracetam in
severe myoclonic epilepsy of infancy (SMEI). Patients and Methods: SMEI patients were …

[HTML][HTML] Magnetic resonance-guided laser interstitial thermal therapy (MR-gLiTT) in pediatric epilepsy surgery: state of the art and presentation of Giannina Gaslini …

…, E Cognolato, M Pacetti, MM Mancardi… - Frontiers in …, 2021 - frontiersin.org
… This allows the formation of a transition zone of approximately 1 mm between the ablation
zone and normal brain tissue, which is monitored in near real time by MR thermometry (6, 7). …

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

…, A Vitobello, C Racine, MM Mancardi… - Brain, 2022 - academic.oup.com
… MgCl 2 , 5 mM EDTA, 1 mM dithiothreitol, 20-fold excess of mant GDP] and subsequently
adding 10 mM MgCl 2 (final concentration) to stop the reaction. Remaining non-bound …