Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy

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 identificati...

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Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457960/
https://ncbi.nlm.nih.gov/pubmed/26046367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.020
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