Familial epilepsy temporal lobe (ETL)

Definition:

Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of ADTLE/ADPEAF pedigrees. In addition, de novo LGI1 mutations are found in about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically similar to the majority of patients with ADLTE/ADPEAF but have no family history.

References:

[1]. Annick Salzmann, et al. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Hum Mutat. 2012 Jan;33(1):124-35. [Content Brief]

[2]. Carlo Nobile, et al. LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. Hum Mutat. 2009 Apr;30(4):530-6. [Content Brief]

[3]. Emanuela Dazzo, et al. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. [Content Brief]

[4]. Michel Guipponi, et al. Galanin pathogenic mutations in temporal lobe epilepsy. Hum Mol Genet. 2015 Jun 1;24(11):3082-91. [Content Brief]

[5]. P Striano, et al. Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. Neurology. 2011 Mar 29;76(13):1173-6. [Content Brief]

[6]. Roberto Michelucci, et al. Lateral temporal lobe epilepsies: clinical and genetic features. Epilepsia. 2009 May;50 Suppl 5:52-4. [Content Brief]

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