FIG4

Publications

Baulac S et al. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria. Neurology. 2014;82(12):1068-75. PMID: 24598713.

Campeau PM et al. Yunis-VarĂ³n syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. Am J Hum Genet. 2013;92(5):781-91. PMID: 23623387.

Chow CY et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet. 2009;84(1):85-8. PMID: 19118816.

Menezes MP et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. PMID: 24878229.

Wright GC et al. Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. Clin Genet. 2020;98(2):147-154. PMID: 32385905.