A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder

European Journal of Paediatric Neurology

Volumn 14, Issue 2, 2010, Pages 188-191

  Psoni, Stavroula ^a   Willems, Patrick J ^b   Kanavakis, Emmanuel ^a   Mavrou, Ariadne ^a   Frissyra, Helen ^a   Traeger Synodinos, Joanne ^a   Sofokleous, Christalena ^a   Makrythanassis, Periklis ^c   Kitsiou Tzeli, Sophia ^a  

^a UNIVERSITY OF ATHENS   (Greece)

^b Genetic Diagnostics Belgium   (Belgium)

^c UNIVERSITY OF GENEVA   (Switzerland)

Author keywords

CDKL5; Last exon; Late onset; Seizures

Indexed keywords

ARGININE; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE LIKE 5; METHYL CPG BINDING PROTEIN 2; RISPERIDONE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADOLESCENT; APRAXIA; ARTICLE; AUTISM; BEHAVIOR DISORDER; BREATHING DISORDER; CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MENTAL DEFICIENCY; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NONSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; REFLUX ESOPHAGITIS; RETT SYNDROME; SEIZURE; SOCIAL INTERACTION; STEREOTYPY; TONIC SEIZURE; VOMITING;

ADOLESCENT; AGE OF ONSET; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; ELECTROCARDIOGRAPHY; EPILEPSY; EXONS; FEMALE; GENE EXPRESSION; HUMANS; METHYL-CPG-BINDING PROTEIN 2; PHENOTYPE; POINT MUTATION; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEIZURES;

EID: 75349095205     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2009.03.006     Document Type: Article

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