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Faculty of Medicine and Surgery
Department of Physiology and Biochemistry
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Issue Date
Title
Author(s)
2015
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene
D'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
2011
Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domain
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Grottesi, Alessandro
;
Biscarini, Andrea
;
Pessia, Mauro
2009
Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties
Imbrici, Paola
;
Grottesi, Alessandro
;
D'Adamo, Maria Cristina
;
Tucker, Stephen J.
;
Pessia, Mauro
2011
Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1
Sicca, Federico
;
Imbrici, Paola
;
D'Adamo, Maria Cristina
;
Moro, Francesca
;
Bonatti, Fabrizia
;
Brovedani, Paola
;
Grottesi, Alessandro
;
Guerrini, Renzo
;
Masi, Gabriele
;
Santorelli, Filippo Maria
;
Pessia, Mauro
Discover
Author
4
D'Adamo, Maria Cristina
4
Pessia, Mauro
2
Tucker, Stephen J.
1
Arning, Larissa
1
Bernasconi, Pia
1
Biscarini, Andrea
1
Biskup, Saskia
1
Bonatti, Fabrizia
1
Brovedani, Paola
.
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Subject
4
Potassium channels
2
Ataxia
1
Acetazolamide
1
Articulation disorders
1
Autism -- Diagnosis
1
Autism in adolescence
1
Epilepsy -- Diagnosis
1
Epilepsy in adolescence
1
Ion channels
.
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