CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Maortua, Hiart ^a   Martínez Bouzas, Cristina ^a   Calvo, María Teresa ^b   Domingo, Maria Rosario ^c   Ramos, Feliciano ^d   García Ribes, Ainhoa ^e   Martínez, María Jesús ^e   López Aríztegui, María Asunción ^e   Puente, Nerea ^a   Rubio, Izaskun ^a   Tejada, María Isabel ^a  

^a BIOCRUCES BIZKAIA HEALTH RESEARCH INSTITUTE   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^e HOSPITAL DE CRUCES   (Spain)

Author keywords

CDKL5; Epilepsy; MECP2; MLPA; Rett syndrome

Indexed keywords

METHYL CPG BINDING PROTEIN 2;

ARTICLE; CDKL5 GENE; CHILD; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVE SITE; EPILEPSY; EXON; FEBRILE CONVULSION; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; ONSET AGE; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; SCHOOL CHILD; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM; SOCIAL BEHAVIOR; X CHROMOSOME INACTIVATION;

AGE OF ONSET; BASE SEQUENCE; CATALYTIC DOMAIN; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; EXONS; FEMALE; GENE REARRANGEMENT; GENETIC TESTING; HUMANS; METHYL-CPG-BINDING PROTEIN 2; MOLECULAR SEQUENCE DATA; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEVERITY OF ILLNESS INDEX;

EID: 84864516253     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-68     Document Type: Article

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