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Ugeskr Laeger. 2014 Dec 15;176(25A). pii: V01130031.

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

[Article in Danish]

Author information

1
Epilepsihotellet, Dianalund, Kolonivej 1, 4293 Dianalund. hhjl@filadelfia.dk.

Abstract

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.

PMID:
25497626
[Indexed for MEDLINE]

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