CDKL5 mutations as a cause of severe epilepsy in infancy: Clinical and electroencephalographic long-term course in 4 patients

Journal of Child Neurology

Volumn 28, Issue 7, 2013, Pages 937-941

  Jähn, Johanna ^a   Caliebe, Almuth ^b   Von Spiczak, Sarah ^a   Boor, Rainer ^c   Stefanova, Irina ^d   Stephani, Ulrich ^a   Helbig, Ingo ^a   Muhle, Hiltrud ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY OF KIEL   (Germany)

^c Northern German Epilepsy Centre for Children and Adolescents   (Germany)

^d UNIVERSITY OF LÜBECK   (Germany)

Author keywords

CDKL5; electroencephalograms; epileptic encephalopathy; late hypsarrhythmia; West syndrome

Indexed keywords

BROMIDE; CARBAMAZEPINE; CLOBAZAM; CORTICOTROPIN; DEXAMETHASONE; ETIRACETAM; LAMOTRIGINE; MESUXIMIDE; NITRAZEPAM; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; RUFINAMIDE; SULTIAME; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; ZONISAMIDE; ANTICONVULSIVE AGENT; CDKL5 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ANTICONVULSANT THERAPY; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CASE REPORT; CDKL5 GENE; CHILD; ELECTROENCEPHALOGRAM; FEMALE; FOCAL EPILEPSY; GENE; GENE DELETION; GENE MUTATION; HUMAN; HYPSARRHYTHMIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC SEIZURE; WEST SYNDROME; ADOLESCENT; DRUG EFFECTS; EPILEPSY; GENETICS; LONGITUDINAL STUDY; MALE; MUTATION; ONSET AGE; PATHOPHYSIOLOGY; YOUNG ADULT;

ADOLESCENT; AGE OF ONSET; ANTICONVULSANTS; BRAIN WAVES; CHILD; CHILD, PRESCHOOL; EPILEPSY; FEMALE; HUMANS; LONGITUDINAL STUDIES; MALE; MUTATION; PROTEIN-SERINE-THREONINE KINASES; YOUNG ADULT;

EID: 84879398212     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812451497     Document Type: Article

References (8)

1. Grosso S, Brogna A, Bazzotti S, et al. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain Dev. 2007 ; 29 (4). 239-242
2. Weaving LS, Christodoulou J, Williamson SL, et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. Am J Hum Genet. 2004 ; 75 (6). 1079-1093
3. Evans JC, Archer HL, Colley JP, et al. Early onset seizures and Rett-like features associated with mutations in CDKL5. Eur J Hum Genet. 2005 ; 13 (10). 1113-1120
4. Archer HL, Evans J, Edwards S, et al. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. J Med Genet. 2006 ; 43 (9). 729-734
5. Bahi-Buisson N, Kaminska A, Boddaert N, et al. The three stages of epilepsy in patients with CDKL5 mutations. Epilepsia. 2008 ; 49 (6). 1027-1037
6. Bahi-Buisson N, Nectoux J, Rosas-Vargas H, et al. Key clinical features to identify girls with CDKL5 mutations. Brain. 2008 ; 131 (Pt 10). 2647-2661
7. Rademacher N, Hambrock M, Fischer U, et al. Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features. Neurogenetics. 2011 ; 12 (2). 165-167
8. Kulandaivel K, Khurana DS, Carvalho KS, et al. Persistence of hypsarrhythmia in children beyond the age of three years. J Child Neurol. 2010 ; 26 (7). 835-837