Focal cortical dysplasia of Taylor;
Focal cortical dysplasia type II

Focal cortical dysplasia of Taylor (FCDT) is a subtype of cortical displasias. FCDT is characterized by epilepsy associated malformations that are often composed of balloon cells and dysplastic neurons. It has been found that inherited mutations in the TSC1 gene can cause this disorder.

Congenital malformation

TSC1 [HSA:7248] [KO:K07206]

PMID:12112044

Becker AJ, Urbach H, Scheffler B, Baden T, Normann S, Lahl R, Pannek HW, Tuxhorn I, Elger CE, Schramm J, Wiestler OD, Blumcke I

Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis.

Ann Neurol 52:29-37 (2002)
DOI:10.1002/ana.10251

PMID:12135964

Tassi L, Colombo N, Garbelli R, Francione S, Lo Russo G, Mai R, Cardinale F, Cossu M, Ferrario A, Galli C, Bramerio M, Citterio A, Spreafico R

Focal cortical dysplasia: neuropathological subtypes, EEG, neuroimaging and surgical outcome.

Brain 125:1719-32 (2002)
DOI:10.1093/brain/awf175

PMID:15642904

Lawson JA, Birchansky S, Pacheco E, Jayakar P, Resnick TJ, Dean P, Duchowny MS

Distinct clinicopathologic subtypes of cortical dysplasia of Taylor.

Neurology 64:55-61 (2005)
DOI:10.1212/01.WNL.0000148647.55705.A3

PMID:19918125

Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A

Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.

J Neuropathol Exp Neurol 68:1136-46 (2009)
DOI:10.1097/NEN.0b013e3181b9a699