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FOXG1 disorder

MedGen UID:
979486
•Concept ID:
CN297063
•
Disease or Syndrome
Synonyms: FOXG1 inherited genetic disease; inherited genetic disease caused by mutation in FOXG1
 
Monarch Initiative: MONDO:0100040

Definition

A monogenic disease that has material basis in mutation in the FOXG1 gene. [from MONDO]

Professional guidelines

PubMed

CDKL5 deficiency disorder: clinical features, diagnosis, and management.
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Chorea in children: etiology, diagnostic approach and management.
Baizabal-Carvallo JF, Cardoso F
J Neural Transm (Vienna) 2020 Oct;127(10):1323-1342. Epub 2020 Aug 9 doi: 10.1007/s00702-020-02238-3. PMID: 32776155
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders.
Lindy AS, Stosser MB, Butler E, Downtain-Pickersgill C, Shanmugham A, Retterer K, Brandt T, Richard G, McKnight DA
Epilepsia 2018 May;59(5):1062-1071. Epub 2018 Apr 14 doi: 10.1111/epi.14074. PMID: 29655203

Recent clinical studies

Etiology

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED
Ann Neurol 2020 Aug;88(2):396-406. Epub 2020 Jun 29 doi: 10.1002/ana.25797. PMID: 32472944Free PMC Article

Diagnosis

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED
Ann Neurol 2020 Aug;88(2):396-406. Epub 2020 Jun 29 doi: 10.1002/ana.25797. PMID: 32472944Free PMC Article
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR
J Pediatr 2016 Nov;178:233-240.e10. Epub 2016 Sep 15 doi: 10.1016/j.jpeds.2016.08.032. PMID: 27640358Free PMC Article

Therapy

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED
Ann Neurol 2020 Aug;88(2):396-406. Epub 2020 Jun 29 doi: 10.1002/ana.25797. PMID: 32472944Free PMC Article

Clinical prediction guides

Comparison of Core Features in Four Developmental Encephalopathies in the Rett Natural History Study.
Cutri-French C, Armstrong D, Saby J, Gorman C, Lane J, Fu C, Peters SU, Percy A, Neul JL, Marsh ED
Ann Neurol 2020 Aug;88(2):396-406. Epub 2020 Jun 29 doi: 10.1002/ana.25797. PMID: 32472944Free PMC Article

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    • ClinVar
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