title: CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.
abstract: CDKL5 mutations cause severe epilepsy in infancy with subsequent epileptic encephalopathy. As yet, few studies report on long-term observations in patients with CDKL5-related epileptic encephalopathy. In this study, we describe the evolution of the epilepsy phenotype and the electroencephalographic (EEG) features in 4 patients during a maximum observation period of 22 years. All 4 patients had epilepsy starting with focal seizures in the first 3 months of life, evolving to epileptic spasms between the ages of 2 and 6 years and later on to tonic seizures. In 3 patients, epilepsy was resistant to antiepileptic therapy. Although there was no common EEG pattern in all patients, late hypsarrhythmia until the age of 9 years was observed in 2 patients. CDKL5-related epileptic encephalopathies are a group of refractory seizure disorders starting in early infancy. The phenomenon of late hypsarrhythmia may help define a subgroup of patients with severe and adverse outcomes.
authors: Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany. j.albers@pedneuro.uni-kiel.de
authors: Johanna
authors: J
authors: Jähn
authors: Almuth
authors: A
authors: Caliebe
authors: Sarah
authors: S
authors: von Spiczak
authors: Rainer
authors: R
authors: Boor
authors: Irina
authors: I
authors: Stefanova
authors: Ulrich
authors: U
authors: Stephani
authors: Ingo
authors: I
authors: Helbig
authors: Hiltrud
authors: H
authors: Muhle
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D000927:Anticonvulsants / Q000627:therapeutic use; D058256:Brain Waves / Q000187:drug effects / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D017346:Protein Serine-Threonine Kinases; C114482:CDKL5 protein, human