Article
Epilepsy and outcome in FOXG1-related disorders.
Epilepsia - 1 Aug 2014
Seltzer Laurie E, Ma Mandy, Ahmed Sohnee, Bertrand Mary, Dobyns William B, Wheless James, Paciorkowski Alex R
Abstract excerpt
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...
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