Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

Epilepsia

Volumn 56, Issue 9, 2015, Pages e129-e133

  Lal, Dennis ^a,b,c   Pernhorst, Katharina ^d   Klein, Karl Martin ^e   Reif, Philipp ^e   Tozzi, Rossana ^f   Toliat, Mohammad R ^a   Winterer, Georg ^a   Neubauer, Bernd ^b   Nürnberg, Peter ^a   Rosenow, Felix ^e   Becker, Felicitas ^g   Lerche, Holger ^g   Kunz, Wolfram S ^d   Kurki, Mitja I ^h,i,j   Hoffmann, Per ^d,k,l   Becker, Albert J ^d   Perucca, Emilio ^f   Zara, Federico ^m,n   Sander, Thomas ^a   Weber, Yvonne G ^g  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY HOSPITAL GIESSEN   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF BONN   (Germany)

^e PHILIPPS UNIVERSITY MARBURG   (Germany)

^f C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^j KUOPIO UNIVERSITY HOSPITAL   (Finland)

^k UNIVERSITY HOSPITAL BASEL   (Switzerland)

^l UNIVERSITY OF BASEL   (Switzerland)

^m UNIVERSITY OF PAVIA   (Italy)

ⁿ G GASLINI INSTITUTE   (Italy)

more..

Author keywords

Copy number variation; Cryptogenic; Genetic; Idiopathic; Lesional; Magnet resonance imaging negative

Indexed keywords

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; EXON; FEMALE; FOCAL EPILEPSY; GENE; GENE DELETION; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIPPOCAMPAL SCLEROSIS; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MULTIFACTORIAL INHERITANCE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; RBFOX1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SPIKE; SPORADIC FOCAL EPILEPSY; TEMPORAL LOBE EPILEPSY; ADOLESCENT; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS (TOPIC); MIDDLE AGED; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

RBFOX1 PROTEIN, HUMAN; RNA BINDING PROTEIN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EPILEPSIES, PARTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; META-ANALYSIS AS TOPIC; MIDDLE AGED; PHENOTYPE; RNA-BINDING PROTEINS; SEQUENCE DELETION;

EID: 84940905022     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.13076     Document Type: Article

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