Early-onset epileptic encephalopathy caused by CDKL5 mutation

Two girls suffering from early-onset epileptic encephalopathy are described. Both girls had changes involving the gene CDKL5. They both had seizures in the first weeks of life and normal EEG interictally. Both developed infantile spasms and severe developmental defect. The epilepsy was difficult to...

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Bibliographic Details
Published inUgeskrift for læger Vol. 176; no. 25A
Main Authors Hjalmgrim, Helle, Hansen, Lars Kjærsgaard, Ousager, Lilian Bomme, Møller, Rikke Steensbjerre
Format Journal Article
LanguageDanish
Published Denmark 15.12.2014
Subjects
Anticonvulsants - therapeutic use
Epileptic Syndromes
Female
Humans
Infant, Newborn
Mutation
Protein-Serine-Threonine Kinases - genetics
Rett Syndrome - diagnosis
Rett Syndrome - diet therapy
Rett Syndrome - drug therapy
Rett Syndrome - genetics
Spasms, Infantile - diagnosis
Spasms, Infantile - diet therapy
Spasms, Infantile - drug therapy
Spasms, Infantile - genetics
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Summary:Two girls suffering from early-onset epileptic encephalopathy are described. Both girls had changes involving the gene CDKL5. They both had seizures in the first weeks of life and normal EEG interictally. Both developed infantile spasms and severe developmental defect. The epilepsy was difficult to treat.
ISSN:1603-6824