FOXG1 encephalopathy

Evidence-based neurology checklist on foxg1 encephalopathy: 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 Clinical features Epilepsy types Hyperkinetic movement…

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

Clinical features

Epilepsy types

Hyperkinetic movement disorders (hyperkinetic encephalopathy)

Stereotypies

Magnetic resonance imaging (MRI) brain: features

Differential diagnosis (of epileptic-hyperkinetic encephalopathy)

Acronym

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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