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

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Early-onset epileptic encephalopathy is a severe neurological disorder characterized by frequent seizures and developmental impairment.
• Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are a known cause of early-onset epileptic encephalopathy, often presenting with early-onset seizures and developmental delay.

Observation:

• This report details two female patients presenting with early-onset epileptic encephalopathy.
• Both patients exhibited seizures within the first weeks of life.
• Electroencephalogram (EEG) findings were normal between seizures (interictally) in both cases.

Findings:

• Genetic analysis revealed mutations in the CDKL5 gene in both affected girls.
• The clinical presentation included the development of infantile spasms, a severe form of epilepsy.
• Both patients experienced significant developmental deficits.
• The epilepsy observed in these cases proved difficult to manage with available treatments.

Implications:

• These findings reinforce the critical role of the CDKL5 gene in early-onset epileptic encephalopathy.
• Understanding the genetic etiology of such severe conditions is crucial for accurate diagnosis and prognosis.
• The treatment-resistant nature of this epilepsy highlights the need for novel therapeutic strategies for CDKL5-related disorders.