AFF2 Is Associated With X-Linked Partial (Focal) Epilepsy With Antecedent Febrile Seizures.

ABSTRACT:

Objective

AFF2 mutations were associated with X-linked intellectual developmental disorder-109 and in males with autism spectrum disorder (ASD). The relationship between AFF2 and epilepsy has not been defined.

Method

Trios-based whole-exome sequencing was performed in a cohort of 372 unrelated cases (families) with partial (focal) epilepsy without acquired causes.

Results

Five hemizygous missense AFF2 mutations were identified in five males with partial epilepsy and antecedent febrile seizures without intellectual disability or other developmental abnormalities. The mutations did not present in the controls of general populations with an aggregate frequency significantly higher than that in the control populations. Previously, intellectual disabil

SUBMITTER: Zou D 

PROVIDER: S-EPMC9006616 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature