A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

PLoS ONE

Volumn 8, Issue 12, 2013, Pages

  Pippucci, Tommaso ^a   Parmeggiani, Antonia ^b,c   Palombo, Flavia ^a   Maresca, Alessandra ^b,c   Angius, Andrea ^d,e   Crisponi, Laura ^d   Cucca, Francesco ^d,f   Liguori, Rocco ^b,c   Valentino, Maria Lucia ^b,c   Seri, Marco ^a,c   Carelli, Valerio ^b,c  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d CNR   (Italy)

^e Center for Advanced Studies Research and Development in Sardinia (CRS4)   (Italy)

^f UNIVERSITY OF SASSARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

ARTICLE; BRAIN DISEASE; CALCIUM CHANNEL VOLTAGE DEPENDENT ALPHA2DELTA SUBUNIT 2 GENE; CASE REPORT; CHILD; CLINICAL EXAMINATION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; EPILEPTIC ENCEPHALOPATHY; FOLLOW UP; GENE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MEDICAL HISTORY; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OUTCOME ASSESSMENT; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING;

CALCIUM CHANNELS; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; SPASMS, INFANTILE;

EID: 84892960345     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0082154     Document Type: Article

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