Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

doi:10.1016/j.ajhg.2015.04.020

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Article

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.

American journal of human genetics - 4 Jun 2015

Dazzo Emanuela, Fanciulli Manuela, Serioli Elena, Minervini Giovanni, Pulitano Patrizia, Binelli Simona, Di Bonaventura Carlo, Luisi Concetta, Pasini Elena, Striano Salvatore, Striano Pasquale, Coppola Giangennaro, Chiavegato Angela, Radovic Slobodanka, Spadotto Alessandro, Uzzau Sergio, La Neve Angela, Giallonardo Anna Teresa, Mecarelli Oriano, Tosatto Silvio C E, Ottman Ruth, Michelucci Roberto, Nobile Carlo

Abstract excerpt

Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic epilepsy syndrome clinically characterized by focal seizures with prominent auditory symptoms. ADLTE is genetically heterogeneous, and mutations in LGI1 account for fewer than 50% of affected families. Here, we report the identification of causal mutations in reelin (RELN) in seven ADLTE-affected families without LGI1 mutations. We initially...

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Identifiers

PMID: 26046367
DOI: 10.1016/j.ajhg.2015.04.020
PMCID: PMC4457960

Genes

RELN
LGI1

Provenance

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