Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features

Neurogenetics

Volumn 12, Issue 2, 2011, Pages 165-167

  Rademacher, Nils ^a   Hambrock, Melanie ^a   Fischer, Ute ^a   Moser, Bettina ^a   Ceulemans, Berten ^b   Lieb, Wolfgang ^c   Boor, Rainer ^d   Stefanova, Irina ^c   Gillessen Kaesbach, Gabriele ^c   Runge, Charlotte ^c   Korenke, Georg Christoph ^e   Spranger, Stefanie ^f   Laccone, Franco ^g   Tzschach, Andreas ^a   Kalscheuer, Vera M ^a  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c UNIVERSITY OF LÜBECK   (Germany)

^d UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^e Children's Hospital   (Germany)

^f Praxis fuer Humangenetik   (Germany)

^g MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

CDKL5; Infantile spasms; Rett syndrome; Seizures

Indexed keywords

CYCLIN DEPENDENT KINASE LIKE 5; GENE PRODUCT; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; AMINO ACID SEQUENCE; CDKL 5 GENE; CLINICAL FEATURE; EXON; FEMALE; GENE; GENE IDENTIFICATION; HUMAN; LETTER; MENTAL DEFICIENCY; MICROCEPHALY; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; RETT SYNDROME; SEIZURE; SEQUENCE ANALYSIS; SYMPTOM;

ADULT; AGE OF ONSET; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; MENTAL RETARDATION; MICE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEIZURES; SEVERITY OF ILLNESS INDEX;

EID: 79959986409     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0277-6     Document Type: Letter

References (6)

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