FOXG1 encephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

FOXG1 encephalopathy. This is a developmental encephalopathy. It starts in infancy or early childhood. Fully referenced neurology checklist.

Developmental features

  • This is a developmental encephalopathy
  • It starts in infancy or early childhood
  • It is caused by mutations of the FOX1 gene on chromosome 14q

Genetic mutations

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Clinical features

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Epilepsy types

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Hyperkinetic movement disorders (hyperkinetic encephalopathy)

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Stereotypies

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Magnetic resonance imaging (MRI) brain: features

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Differential diagnosis (of epileptic-hyperkinetic encephalopathy)

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Acronym

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References

  1. Cellini E, Vignoli A, Pisano T, et al; FOXG1 Syndrome Study Group. The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. Dev Med Child Neurol 2016; 58:93-97.
  2. Vegas N, Cavallin M, Maillard C, et al. Delineating FOXG1 syndrome: from congenital microcephaly to hyperkinetic encephalopathy. Neurol Genet 2018; 4:e281.
  3. Papandreou A, Schneider RB, Augustine EF, et al. Delineation of the movement disorders associated with FOXG1 mutations. Neurology 2016; 86:1794-1800. 
  4. Seltzer LE, Ma M, Ahmed S, et al. Epilepsy and outcome in FOXG1-related disorders. Epilepsia 2014; 55:1292-1300. 
  5. Kortüm F, Das S, Flindt M, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 2011; 48:396-406. 
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