WWOX and severe autosomal recessive epileptic encephalopathy: First case in the prenatal period

Journal of Human Genetics

Volumn 60, Issue 5, 2015, Pages 267-271

  Valduga, Mylène ^a   Philippe, Christophe ^a   Lambert, Laetitia ^b   Bach Segura, Pascale ^b   Schmitt, Emmanuelle ^a   Masutti, Jean Pierre ^b   François, Bénédicte ^c   Pinaud, Patrick ^c   Vibert, Mireille ^c   Jonveaux, Philippe ^a  

^a UNIVERSITY HOSPITAL OF NANCY   (France)

^b Maternite Regionale Universitaire   (France)

^c CHR Metz Thionville   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CLOBAZAM; HYDROCORTISONE; VALPROIC ACID; VIGABATRIN; OXIDOREDUCTASE; TUMOR SUPPRESSOR PROTEIN; WWOX PROTEIN, HUMAN;

ARTICLE; AUTOPSY; BIPARIETAL DISTANCE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN DISEASE; BRAIN MALFORMATION; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME DELETION; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DISEASE SEVERITY; DRUG MEGADOSE; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAM; EXON; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS MOVEMENT; GENE; GENETIC ANALYSIS; GENOTYPE; GESTATION PERIOD; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HYPERTROPHIC OBSTRUCTIVE CARDIOMYOPATHY; HYPSARRHYTHMIA; INFANT; INFANTILE SPASM; MACROCEPHALY; MALE; MICROGYRIA; MOLECULAR DIAGNOSIS; MUSCLE HYPERTONIA; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRENATAL PERIOD; QUANTITATIVE ANALYSIS; SCOLIOSIS; SEIZURE; THIRD TRIMESTER PREGNANCY; TREATMENT RESPONSE; WWOX GENE; ECHOGRAPHY; EPILEPSY; FATALITY; GENETIC ASSOCIATION STUDY; GENETICS; NEWBORN; PREGNANCY; RECESSIVE GENE;

BRAIN DISEASES; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT, NEWBORN; MALE; OXIDOREDUCTASES; PREGNANCY; TUMOR SUPPRESSOR PROTEINS; ULTRASONOGRAPHY, PRENATAL;

EID: 84929902447     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.17     Document Type: Article

References (5)

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2. Abdel-Salam G., Thoenes M., Afifi H. H., Korber F., Swan D. & Bolz H. J. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J. Rare Dis. 9, 12 (2014
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