Lack of pathogenic mutations in six patients with MMPSI

Epilepsy Research

Volumn 108, Issue 2, 2014, Pages 340-344

  De Filippo, Maria Rosaria ^a,b   Rizzo, Francesca ^a   Marchese, Giovanna ^a   Giurato, Giorgio ^a   Nassa, Giovanni ^a   Ravo, Maria ^a   Tarallo, Roberta ^a   Pironti, Erica ^c   Vecchi, Marilena ^d   Crichiutti, Giovanni ^e   Capizzi, Giorgio ^f   Verrotti, Alberto ^g   Weisz, Alessandro ^a,c   Coppola, Giangennaro ^c  

^a UNIVERSITY OF SALERNO   (Italy)

^b IRCCS SDN   (Italy)

^c UNIVERSITY OF SALERNO   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

^e UNIVERSITY OF UDINE   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g UNIVERSITY OF CHIETI   (Italy)

Author keywords

KCNT1; MMPSI; PLCB1; SCN1A; Targeted re sequencing; TBC1D24

Indexed keywords

ANTICONVULSIVE AGENT;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; FOCAL EPILEPSY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE TARGETING; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; INFANT; INFANT DISEASE; INTRON; KCNT1 GENE; MALE; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; MUTATIONAL ANALYSIS; PHENOTYPE; PLCB1 GENE; PREDICTION; PRIORITY JOURNAL; SCN1A GENE; SYMPTOM; TBC1D24 GENE;

KCNT1; MMPSI; PLCB1; SCN1A; TARGETED RE-SEQUENCING; TBC1D24;

CARRIER PROTEINS; EPILEPSIES, PARTIAL; FEMALE; GENETIC VARIATION; HUMANS; INFANT; MALE; MUTATION; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; PHENOTYPE; PHOSPHOLIPASE C BETA; POTASSIUM CHANNELS; SEQUENCE DELETION;

EID: 84895075145     PISSN: 09201211     EISSN: 18726844     Source Type: Journal    
DOI: 10.1016/j.eplepsyres.2013.11.007     Document Type: Article

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