Clinical phenotype of 5 females with a CDKL5 mutation

Journal of Child Neurology

Volumn 27, Issue 1, 2012, Pages 90-93

  Stalpers, Xenia L ^a   Spruijt, Liesbeth ^b   Yntema, Helger G ^b   Verrips, Aad ^a  

^a CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

CDKL5 gene; Early Rett syndrome; Early onset seizures; Infantile spasms

Indexed keywords

CARBAMAZEPINE; CORTICOTROPIN; CYCLIN DEPENDENT KINASE 5; ETIRACETAM; NITRAZEPAM; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; VALPROIC ACID; VIGABATRIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EPILEPSY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; INFANT; INFANTILE SPASM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; RETT SYNDROME; SEIZURES; YOUNG ADULT;

EID: 84856920207     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811413832     Document Type: Article

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