Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy

Molecular and Cellular Neuroscience

Volumn 72, Issue , 2016, Pages 54-63

  Rizzo, Francesca ^a   Ambrosino, Paolo ^b   Guacci, Anna ^a,c   Chetta, Massimiliano ^a   Marchese, Giovanna ^a,c   Rocco, Teresa ^a,c   Soldovieri, Maria Virginia ^b   Manocchio, Laura ^b   Mosca, Ilaria ^b   Casara, Gianluca ^d   Vecchi, Marilena ^e   Taglialatela, Maurizio ^b   Coppola, Giangennaro ^c   Weisz, Alessandro ^a  

^a UNIVERSITY OF SALERNO   (Italy)

^b UNIVERSITY OF MOLISE   (Italy)

^c UNIVERSITY OF SALERNO   (Italy)

^d CENTRAL HOSPITAL OF BOLZANO   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

Author keywords

Early onset epileptic encephalopathies; KCNT1 gene; MMPSI; Whole exome sequencing; Whole cell electrophysiology

Indexed keywords

BEPRIDIL; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; QUINIDINE; KCNT1 PROTEIN, HUMAN; NERVE PROTEIN; POTASSIUM CHANNEL; POTASSIUM CHANNEL BLOCKING AGENT;

ARTICLE; BRAIN DISEASE; BRAIN REGION; CASE REPORT; CELLS BY BODY ANATOMY; CHILD; EPILEPSY; EXOME; FOCAL EPILEPSY; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEMISPHERE; HETEROZYGOSITY; HUMAN; INFANT; KCNT1 GENE; MALE; POTASSIUM CURRENT; PRIORITY JOURNAL; WILD TYPE; ANIMAL; ANTAGONISTS AND INHIBITORS; CHANNEL GATING; CHO CELL LINE; CRICETULUS; GENETICS; HAMSTER; METABOLISM; MISSENSE MUTATION; SPASMS, INFANTILE;

ANIMALS; CHO CELLS; CRICETINAE; CRICETULUS; EXOME; HUMANS; INFANT; ION CHANNEL GATING; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; POTASSIUM CHANNEL BLOCKERS; POTASSIUM CHANNELS; SPASMS, INFANTILE;

EID: 84956666978     PISSN: 10447431     EISSN: 10959327     Source Type: Journal    
DOI: 10.1016/j.mcn.2016.01.004     Document Type: Article

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