Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2025-2028

  Boutry Kryza, Nadia ^a,b,c   Ville, Dorothée ^a   Labalme, Audrey ^a   Calender, Alain ^a,b,d   Dupont, Jean Michel ^e   Touraine, Renaud ^f   Edery, Patrick ^a,b,c   des Portes, Vincent ^a   Sanlaville, Damien ^a,b,c   Lesca, Gaetan ^a,b,c  

^a HOSPICES CIVILS DE LYON   (France)

^b UNIVERSITÉ LYON 1   (France)

^c LYON NEUROSCIENCE RESEARCH CENTER   (France)

^d CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f Saint Etienne University Hospital   (France)

Author keywords

Array CGH; CDKL5 deletion; Early epileptic encephalopathy; FoSTes mechanism; Infantile spasm; MLPA analysis

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; VIGABATRIN; CDKL5 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ALLELE; ARTICLE; BRAIN DISEASE; CASE REPORT; CDKL5 GENE; CHILD; CHROMOSOME BREAKAGE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE DURATION; DNA DETERMINATION; DRUG TREATMENT FAILURE; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXON; FEMALE; FORK STALLING AND TEMPLATE SWITCHING MECHANISM; GENE; GENE DELETION; GENE REARRANGEMENT; HUMAN; INFANTILE SPASM; KARYOTYPING; MOLECULAR GENETICS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTANT ALLELE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA ANALYSIS; X CHROMOSOME INACTIVATION; GENE DUPLICATION; GENETIC ASSOCIATION; GENETICS; INFANT; MUTATION; NEWBORN; RETT SYNDROME; SPASMS, INFANTILE;

ALLELES; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MOSAICISM; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SPASMS, INFANTILE; X CHROMOSOME INACTIVATION;

EID: 84904413434     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36547     Document Type: Article

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