Tuberous sclerosis

MEK-ERK1/2-Dependent FLNA Overexpression Promotes Abnormal Dendritic Patterning in Tuberous Sclerosis Independent of mTOR

“…In these mice, Cre electroporation led to tdTomato expression and excision of the floxed Tsc1 allele in both neural stem cells and their progeny as we previously reported (Feliciano et al, 2012) (data not shown). We used Tsc1 fl/mut mice to match the genetics of TSC individuals who are heterozygous for one of the TSC alleles ( TSC1 or TSC2) but harbor neurons that lose the second TSC allele during development (Au et al, 2004; Feliciano et al, 2013a; Kwiatkowski and Short, 1994). As a control, we used the contralateral OB that does not contain electroporated cells.…”

Pathophysiology and management of glaucoma associated with phakomatoses

“…to 10,000 (Kwiatkowski, 1994). Mutations in the TSC2 gene are more frequent than mutations in the TSC1 gene in patients with retinal findings (Aronow, Nakagawa, Gupta, Traboulsi, & Singh, 2012).…”

“…Two‐thirds of cases are de novo events. The incidence of TSC is estimated to be 1 in 6,000 to 10,000 (Kwiatkowski, ). Mutations in the TSC2 gene are more frequent than mutations in the TSC1 gene in patients with retinal findings (Aronow, Nakagawa, Gupta, Traboulsi, & Singh, ).…”

A circuitry and biochemical basis for tuberous sclerosis symptoms: from epilepsy to neurocognitive deficits

“…Cortical tubers are focal cerebral cortical malformations that are thought to form in utero during corticogenesis (Kwiatkowski and Short, 1994; Wortmann et al, 2008). They are currently targeted for resection in pharmacologically intractable epileptic TSC patients, and their removal resolves seizures in a subpopulation of patients (Bollo et al, 2008).…”