Epilepsy and outcome in FOXG1-related disorders.

ABSTRACT:

Objective

FOXG1-related disorders are associated with severe intellectual disability, absent speech with autistic features, and epilepsy. Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements. Duplications of 14q12 often present with infantile spasms, and have subsequent intellectual disability with autistic features. Long-term epilepsy outcome and response to treatment have not been studied systematically in a well-described cohort of subjects with FOXG1-related disorders. We report on the epilepsy features and developmental outcome of 23 new subjects with deletions or intragenic mutations of FOXG1, and 7 subjects with duplications.

Methods

Subjects had either chr

SUBMITTER: Seltzer LE 

PROVIDER: S-EPMC4265461 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature