Analysis of Clinical characterization of Epilepsy in Childre
Epilepsy is highly prevalent in children with Angelman syndrome (AS) and its detailed characterization and relationship to the genotype is important both for medical practice and for clinical trial design.

Researchers retrospectively analyzed the main clinical features of epilepsy in 265 children with AS who were enrolled in the AS Natural History Study (ASNHS), a multi-center, observational study conducted at six centers in the US. Participants were prospectively followed and classified by genotype.

--Epilepsy was reported in a greater proportion of individuals with a deletion than a non-deletion genotype.

--Compared to participants with a non-deletion genotype, those with deletions were younger at the time of first seizure, and had a higher prevalence of generalized motor seizures.

--Hospitalization following a seizure was reported in more children with a deletion than a non-deletion genotype (92 out of 171).

--The overall prevalence of absence seizures was not significantly different between genotype groups.

--46% of the individuals reporting epilepsy were diagnosed with AS concurrently or after their first seizure.

Finally, there are significant disparities in the clinical expression of epilepsy in AS depending on the underlying genotype, with patients with AS due to a chromosome 15 loss experiencing earlier onset and more severe epilepsy.

Source: https://www.sciencedirect.com/science/article/pii/S0887899421001806?dgcid=rss_sd_all
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