WWOX-related encephalopathies: Delineation of the phenotypical spectrum and emerging genotype-phenotype correlation

Journal of Medical Genetics

Volumn 52, Issue 1, 2015, Pages 61-70

  Mignot, Cyril ^a   Lambert, Laetitia ^b   Pasquier, Laurent ^c   Bienvenu, Thierry ^d   Delahaye Duriez, Andrée ^e   Keren, Boris ^a   Lefranc, Jérémie ^f   Saunier, Aline ^g   Allou, Lila ^h   Roth, Virginie ^g   Valduga, Mylène ^g   Moustaïne, Aissa ^g   Auvin, Stéphane ⁱ   Barrey, Catherine ^j   Chantot Bastaraud, Sandra ^k   Lebrun, Nicolas ^d   Moutard, Marie Laure ^k   Nougues, Marie Christine ^k   Vermersch, Anne Isabelle ^k   Héron, Bénédicte ^k,l   Pipiras, Eva ^e   Héron, Delphine ^a   Olivier Faivre, Laurence ^m   Guéant, Jean Louis ^h   Jonveaux, Philippe ^g,h   Philippe, Christophe ^g,h   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Maternite Regionale Universitaire   (France)

^c SERVICE DE RHUMATOLOGIE   (France)

^d HÔTEL DIEU   (France)

^e Section of Radiology   (France)

^f CHU MORVAN   (France)

^g UNIVERSITY HOSPITAL OF NANCY   (France)

^h UNIVERSITÉ DE LORRAINE   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j Hopital Saint Camille   (France)

^k ARMAND TROUSSEAU HOSPITAL   (France)

^l HÔPITAL JEAN VERDIER   (France)

^m DIJON UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTICONVULSIVE AGENT; OXIDOREDUCTASE; PROTEIN; STOP CODON; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; WW DOMAIN CONTAINING OXIDOREDUCTASE; WWOX PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN DISEASE; CEREBELLAR ATAXIA; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA DETERMINATION; DRUG RESPONSE; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAM; EPILEPSY; EPILEPTIC STATE; EXON; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENETIC DATABASE; GENETICS; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; HUMAN CELL; INDEL MUTATION; INFANT; INFANTILE EPILEPTIC ENCEPHALOPATHY; INFANTILE SPASM; LUNG INFECTION; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NULL ALLELE; OPTIC NERVE ATROPHY; PATHOLOGY; PEDIGREE; PHENOTYPE; POINT MUTATION; PREMATURITY; PRIORITY JOURNAL; RETINA DEGENERATION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION; STOP CODON;

CODON, NONSENSE; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION, MISSENSE; OXIDOREDUCTASES; PATHOLOGY; PHENOTYPE; SPASMS, INFANTILE; SPINOCEREBELLAR ATAXIAS; TUMOR SUPPRESSOR PROTEINS;

EID: 84963941031     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102748     Document Type: Article

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