[Early-onset epileptic encephalopathy caused by CDKL5 mutation].

Ugeskr Laeger

Epilepsihotellet, Dianalund, Kolonivej 1, 4293 Dianalund.

Published: December 2014

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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