Patients with FOXG1-related disorders have severe intellectual disability, absent speech, autistic features, and epilepsy.
Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly and structural corpus callosum abnormalities.
Seltzer et al. reported on the epilepsy characteristics and developmental outcome of 30 patients with FOXG1 mutations (23 with deletions or intragenic mutations of FOXG1, and 7 subjects with duplications).
Epilepsy was diagnosed in 87% of the patients. Patients with duplications had earlier mean age for epilepsy but most of them did not require long-term antiepileptic medication. All children with infantile spasms and FOXG1 duplication responded to hormonal therapy and only one required long-term antiepileptic therapy.
All patients had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or severity of seizures. All had impaired speech and social skills (3 patients with FOXG1 duplication had autism). The motor skills of subjects with deletion/intragenic mutations were significantly more affected.
Epilepsy and outcome in FOXG1-related disorders. Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR. Epilepsia. 2014 Aug;55(8):1292-300.
Posted by Yannis Trakadis, MD