The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

Epilepsy & Behavior(2017)

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摘要
•Heterozygous mutations of reelin (RELN) were found in 7 Italian ADLTE families.•We compared the phenotype of the 7 RELN families with that of 12 LGI1 mutated pedigrees.•No significant difference was found between RELN- and LGI1-associated phenotype.•RELN mutations account for 17,5% of ADLTE families observed in Italy.
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关键词
RELN,LGI1,ADLTE,ADPEAF
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