Article
[Early-onset epileptic encephalopathy caused by CDKL5 mutation].
Ugeskrift for laeger - 15 Dec 2014
Hjalmgrim Helle, Hansen Lars Kjærsgaard, Ousager Lilian Bomme, Møller Rikke Steensbjerre
Abstract excerpt
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.
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