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    • "Recently, we and others have identified mutations causing ADLTE in LGI1 (Kalachikov et al. 2002; Morante-Redolat et al. 2002). Numerous additional LGI1 mutations resulting in either protein truncation or single amino acid substitutions have been reported subsequently (see Ottman et al. 2004), including a de novo mutation (Bisulli et al. 2004). Overall, LGI1 mutations have been found in about 50% of ADLTE families (Michelucci et al. 2003; Berkovic et al. 2004; Ottman et al. 2004). "
    Dataset: J NEUROCHEM
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    • "Interestingly, 50% of ADLTE families did not show any LGI1 mutations [12]. Moreover, de novo LGI1 mutations in unrelated sporadic TLE cases with auditory features, also called idiopathic partial epilepsy with auditory features (IPEAF) [13], account for about 2% of cases only [14]. A recent study, evaluating LGI1 promoter, prodynorphin (PDYN), and GABA (B) receptor 1 (GABBR1) genes in 104 sporadic IPEAF, did not show any statistically significant differences between patients and controls [15] "
  • Source
    • "Interestingly, 50% of ADLTE families did not show any LGI1 mutations [12]. Moreover, de novo LGI1 mutations in unrelated sporadic TLE cases with auditory features, also called idiopathic partial epilepsy with auditory features (IPEAF) [13], account for about 2% of cases only [14]. A recent study, evaluating LGI1 promoter, prodynorphin (PDYN), and GABA (B) receptor 1 (GABBR1) genes in 104 sporadic IPEAF, did not show any statistically significant differences between patients and controls [15] "
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    ABSTRACT: Temporal lobe epilepsy (TLE) is usually regarded as a polygenic and complex disorder. To understand its genetic component, numerous linkage analyses of familial forms and association studies of cases versus controls have been conducted since the middle of the nineties. The present paper lists genetic findings for TLE from the initial segregation analysis to the most recent results published in May 2011. To date, no genes have been clearly related to TLE despite many efforts to do so. However, it is vital to continue replication studies and collaborative attempts to find significant results and thus determine which gene variant combination plays a definitive role in the aetiology of TLE.
    02/2012; 2012(2090-1348):863702. DOI:10.1155/2012/863702
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