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Issue DateTitleAuthor(s)
2011Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1Sicca, Federico; Imbrici, Paola; D'Adamo, Maria Cristina; Moro, Francesca; Bonatti, Fabrizia; Brovedani, Paola; Grottesi, Alessandro; Guerrini, Renzo; Masi, Gabriele; Santorelli, Filippo Maria; Pessia, Mauro
2016KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityKaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary Bandary; Hasan, Sonia M.; Muccioli, Maria; Almutairi, Faten B.; Almass, Rawan; Aldosary, Mazhor S.; Monies, Dorota Marta; Mustafa, Osama M.; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Ewa A.; Binhumaid, Faisal S.; Qari, Alya A.; Almutairi, Fatema; Meyer, Brian Francis; Plageman, Timothy F.; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed A.
2007Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; Pessia, Mauro
2006Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro
2003Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channelsImbrici, Paola; Cusimano, Antonella; D'Adamo, Maria Cristina; Curtis de, Amalia; Pessia, Mauro
2015Animal models of episodic ataxia type 1 (EA1)D'Adamo, Maria Cristina; Di Giovanni, Giuseppe; Pessia, Mauro
2012Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperatureBrunetti, Orazio; Imbrici, Paola; Botti, Fabio Massimo; Pettorossi, Vito Enrico; D'Adamo, Maria Cristina; Valentino, Mario; Zammit, Christian; Mora, Marina; Gibertini, Sara; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro
2013K+ channelepsy : progress in the neurobiology of potassium channels and epilepsyD'Adamo, Maria Cristina; Catacuzzeno, Luigi; Di Giovanni, Giuseppe; Franciolini, Fabio; Pessia, Mauro
1999Localization and age-dependent expression of the inward rectifier K+ channel subunit Kir 5.1 in a mammalian reproductive systemSalvatore, Lorena; D'Adamo, Maria Cristina; Polishchuk, Roman S.; Salmona, Mario; Pessia, Mauro
2015Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneD'Adamo, Maria Cristina; Gallenmuller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro; Klopstock, Thomas