Article
Genetic analysis of the LGI/Epitempin gene family in sporadic and familial lateral temporal lobe epilepsy.
Epilepsy research - 1 Aug 2006
Ayerdi-Izquierdo A, Stavrides G, Sellés-Martínez J J, Larrea L, Bovo G, López de Munain A, Bisulli F, Martí-Massó J F, Michelucci R, Poza J J, Tinuper P, Stephani U, Striano P, Striano S, Staub E, Sarafidou T, Hinzmann B, Moschonas N, Siebert R, Deloukas P, Nobile C, Pérez-Tur J
Abstract excerpt
Mutations in the LGI1/Epitempin gene cause autosomal dominant lateral temporal lobe epilepsy (ADLTE), a partial epilepsy characterized by the presence of auditory seizures. However, not all the pedigrees with a phenotype consistent with ADLTE show mutations in LGI1/Epitempin, or evidence for linkage to the 10q24 locus. Other authors as well as ourselves have found an internal repeat (EPTP, pfam# PF03736) that...
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