CDKL5 variant in a boy with infantile epileptic encephalopathy: case report

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Infantile Epileptic Encephalopathy (IEE) presents significant challenges in diagnosis and treatment.
• Early identification of genetic causes is crucial for targeted therapies.

Observation:

• An 18-month-old Chinese boy exhibited intractable epilepsy, developmental delay, and autistic features.
• Multiple seizure types were present, including absence, myoclonic, limb spasm, and tonic seizures.
• Seizure control was achieved at age 3 with clonazepam and chloral hydrate, leading to improved communication skills.

Findings:

• A novel hemizygous missense variant (c.1649G>A; p.R550Q) in the CDKL5 gene was identified.
• This variant was also found in his asymptomatic mother and elder sister.
• The patient's phenotype was less severe compared to other reported male cases.

Implications:

• Screening for CDKL5 gene mutations is recommended for boys with pharmacoresistant epilepsy.
• Benzodiazepines may be a beneficial therapeutic option for Infantile Epileptic Encephalopathy (IEE).
• Understanding CDKL5 variants can aid in predicting disease severity and guiding treatment strategies.