Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

Epilepsia

Volumn 55, Issue 11, 2014, Pages 1748-1753

  Mei, Davide ^a   Darra, Francesca ^b   Barba, Carmen ^a   Marini, Carla ^a   Fontana, Elena ^b   Chiti, Laura ^a   Parrini, Elena ^a   Bernardina, Bernardo Dalla ^b   Guerrini, Renzo ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

CDKL5; Epileptic encephalopathy; Mosaic; Mutation

Indexed keywords

ANTICONVULSIVE AGENT; COMPLEMENTARY DNA; GENOMIC DNA; CDKL5 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ADOLESCENT; ANTICONVULSANT THERAPY; ARTICLE; BOY; CEREBELLAR VERMIS HYPOPLASIA; CEREBELLUM DISEASE; CEREBELLUM VERMIS; CHILD; CLINICAL FEATURE; CLINICAL TRIAL; COHORT ANALYSIS; COPY NUMBER VARIATION; CYCLIN DEPENDENT KINASE LIKE 5 GENE; DIAGNOSTIC VALUE; DISEASE ASSOCIATION; DISEASE SEVERITY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; EXON; FOCAL EPILEPSY; FOLLOW UP; GENE; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC SCREENING; GERMLINE MUTATION; HUMAN; HYPOPLASIA; INFANTILE SPASM; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; SEQUENCE ANALYSIS; TONIC CLONIC SEIZURE; DEVELOPMENTAL DISORDER; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; INFANT; MUTATION; PRESCHOOL CHILD; RETT SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME;

EID: 84922069275     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12803     Document Type: Article

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