Varaico: Literature-Extracted Genetic Variants

Gene:FOXG1
Variant:p.Q86*
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FOXG1

NM_005249.5:p.Q86*

Associated Papers

FOXG1-Related Syndrome: From Clinical to Molecular Genetics and Pathogenic Mechanisms.

Wong LC et al.

International Journal of Molecular Sciences, 2019

31454984 (PubMed )
Supplement: ijms-20-04176-s001.pdf

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.

Mitter D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

Ma M et al.

The Journal of Pediatrics, 2016

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A et al.

Neurology, 2016

27029630 (PubMed )
Supplement: supp_WNL.0000000000002585_Tables.pdf

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE et al.

Epilepsia, 2014

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Kortüm F et al.

Journal of Medical Genetics, 2011

FOXG1 Mutation is a Low-Incidence Genetic Cause in Atypical Rett Syndrome.

Byun CK et al.

Child Neurology Open, 0

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