Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice

Clinical Genetics

Volumn 93, Issue 5, 2018, Pages 1057-1062

  Tumiene B ^a,b   Maver, A ^a   Writzl, K ^a   Hodzic A ^a   Cuturilo G ^c   Kuzmanic Samija R ^d   Culic V ^d   Peterlin, B ^a  

^a UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

^b VILNIUS UNIVERSITY   (Lithuania)

^c UNIVERSITY CHILDREN S HOSPITAL   (Serbia)

^d UNIVERSITY HOSPITAL SPLIT   (Croatia)

Author keywords

diagnostic yield; epilepsy genetics; monogenic epilepsies; next generation sequencing; SOX5; UBA5

Indexed keywords

MITOCHONDRIAL DNA; SOX5 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX; UBA5 PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ADULT; AGED; APGAR SCORE; ARTHROGRYPOSIS; ARTICLE; ATAXIA; AUTISM; BRAIN ATROPHY; BRAIN DISEASE; CEREBELLUM HYPOPLASIA; CEREBRAL PALSY; CHILD; CLINICAL EVALUATION; CLINICAL PRACTICE; COHORT ANALYSIS; CONGENITAL DISORDER; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; CRYPTORCHISM; DEVELOPMENTAL DELAY; DIAGNOSTIC VALUE; DIVERGENT STRABISMUS; EPILEPSY; FACIES; FEEDING DIFFICULTY; FEMALE; GENETIC HETEROGENEITY; GENOMICS; GINGIVA HYPERTROPHY; HEARING IMPAIRMENT; HETEROTOPIA; HETEROZYGOTE; HORSESHOE KIDNEY; HUMAN; INFANT; INFANTILE SPASM; INGUINAL HERNIA; INTELLECTUAL IMPAIRMENT; LEUKOENCEPHALOPATHY; LYSOSOME STORAGE DISEASE; MACROCEPHALY; MACROGYRIA; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MICROCEPHALY; MICROGYRIA; MUSCLE ATROPHY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NERVE DEGENERATION; NYSTAGMUS; OPISTHOTONUS; POLYDACTYLY; POLYNEUROPATHY; PRIORITY JOURNAL; QUADRIPLEGIA; SPASTICITY; STRABISMUS; THYROGLOSSAL DUCT CYST; TWIN PREGNANCY; WHOLE EXOME SEQUENCING; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MIDDLE AGED; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; EPILEPTIC SYNDROMES; EXOME; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; INFANT; MALE; MIDDLE AGED; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SOXD TRANSCRIPTION FACTORS; UBIQUITIN-ACTIVATING ENZYMES; WHOLE EXOME SEQUENCING; YOUNG ADULT;

EID: 85044230477     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.13203     Document Type: Article

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