Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

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Abstract
Familial temporal lobe epilepsy (MIM 608096) was first described by Berkovic et al. and was recognised as a distinct epileptic syndrome by the International League Against Epilepsy.5 It is defined by familial occurrence of simple partial seizures, complex partial seizures, and secondarily generalised seizures of temporal lobe origin.6 Two genetically distinct autosomal dominant familial temporal lobe epilepsy syndromes have been reported. Autosomal dominant lateral temporal lobe epilepsy (MIM 600512), or autosomal dominant partial epilepsy with auditory features, was described first by Ottman et al.,7 and recently, mutations in the leucine rich glioma inactivated 1 (LGI1) gene on chromosome 10q24 were identified.8, 9 Auras that present as auditory and visual hallucinations are a clinical hallmark of this syndrome. The other variant of familial temporal lobe epilepsy is characterised clinically by onset in teenage years or early adulthood, absence of antecedent factors, low frequency of deja vu, and a usually good prognosis. This variant, which still can be heterogeneous genetically, is not mapped yet. In a large family with febrile seizures (MIM 121210) and familial temporal lobe epilepsy without hippocampal sclerosis, digenic inheritance with loci on chromosomes 1q25–q31 and 18qter was suggested.10 Finally, in a large pedigree with a mutation in SCN1A, a few affected mutation carriers had temporal lobe epilepsy, while others had febrile seizures.11