CDKL5 deficiency disorder (CDD) is a developmental and epileptic encephalopathy (CDKL5-DEE). The median age of seizure onset is 6 weeks, and 90% of cases have onset before 3 months, which is classified as very early epilepsy onset [1–3] Seizures typically occur at onset as tonic and epileptic spasms seizures, but may present in multiple forms. A characteristic feature for CDD is the presence of sequential hypermotor (hyperkinetic)-tonic-spasm seizures, although this pattern is not observed in all cases [1–9].
Seguir leyendo →AGO