Genetically induced dysfunctions of Kir2.1 channels: Implications for short QT3 syndrome and autism-epilepsy phenotype

Human Molecular Genetics

Volumn 23, Issue 18, 2014, Pages 4875-4886

  Ambrosini, Elena ^a   Sicca, Federico ^b   Brignone, Maria S ^a   D'adamo, Maria C ^c   Napolitano, Carlo ^d   Servettini, Ilenio ^c   Moro, Francesca ^b   Ruan, Yanfei ^d   Guglielmi, Luca ^c   Pieroni, Stefania ^c   Servillo, Giuseppe ^c   Lanciotti, Angela ^a   Valvo, Giulia ^b   Catacuzzeno, Luigi ^c   Franciolini, Fabio ^c   Molinari, Paola ^a   Marchese, Maria ^b   Grottesi, Alessandro ^e   Guerrini, Renzo ^b,f   Santorelli, Filippo M ^b   Priori, Silvia ^d   Pessia, Mauro ^c   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^c UNIVERSITY OF PERUGIA   (Italy)

^d IRCCS   (Italy)

^e CASPUR   (Italy)

^f UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CAV2 PROTEIN, HUMAN; CAVEOLIN 1; CAVEOLIN 2; INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ2 PROTEIN, HUMAN;

ANIMAL; ASTROCYTOMA; AUTISM; CELL LINE; CHILD; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; EMBRYOLOGY; EPILEPSY; GENETIC ASSOCIATION; GENETICS; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION SYSTEM; HEK293 CELL LINE; HUMAN; MALE; METABOLISM; MONOZYGOTIC TWINS; MUTATION; PATHOLOGY; PHENOTYPE; XENOPUS LAEVIS;

ANIMALS; ARRHYTHMIAS, CARDIAC; ASTROCYTOMA; AUTISTIC DISORDER; CAVEOLIN 1; CAVEOLIN 2; CELL LINE; CHILD; EPILEPSY; GENETIC ASSOCIATION STUDIES; HEART CONDUCTION SYSTEM; HEART DEFECTS, CONGENITAL; HEK293 CELLS; HUMANS; MALE; MUTATION; PHENOTYPE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; TWINS, MONOZYGOTIC; XENOPUS LAEVIS;

EID: 84906827273     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu201     Document Type: Article

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