From the Research
Seizures occur in approximately 58.2% of individuals with 1p36 deletion syndrome, as reported in the most recent and highest quality study 1. The seizures associated with 1p36 deletions typically begin in early childhood, often within the first year of life, and can present as various types including infantile spasms, generalized tonic-clonic seizures, partial complex seizures, and absence seizures. Some key points to consider include:
- The severity and frequency of seizures vary significantly among affected individuals, with some experiencing refractory epilepsy that is difficult to control with standard anticonvulsant medications 1.
- Treatment typically involves anticonvulsant medications such as levetiracetam, valproic acid, or topiramate, often requiring combination therapy for adequate seizure control.
- Dosing must be individualized based on the patient's age, weight, seizure type, and response.
- Regular neurological follow-up is essential for monitoring seizure activity and medication effectiveness, with EEG studies recommended for diagnosis and treatment guidance.
- The underlying cause of seizures in 1p36 deletion syndrome relates to the loss of genes in the deleted region that are important for normal brain development and neuronal function, leading to abnormal electrical activity in the brain. It is worth noting that the study by 1 provides the most recent and highest quality evidence on the topic, and its findings should be prioritized when making clinical decisions. Other studies, such as 2, 3, 4, and 5, provide additional information on the topic, but their findings are either older or of lower quality, and should be considered secondary to the findings of 1.