Medicine (Austin & Northern Health) - Research Publications

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Subject: Genetics × End date: 2012 × Start date: 2012 × Author: Scheffer, Ingrid ×

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    Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency
    Arsov, T ; Mullen, SA ; Damiano, JA ; Lawrence, KM ; Huh, LL ; Nolan, M ; Young, H ; Thouin, A ; Dahl, H-HM ; Berkovic, SF ; Crompton, DE ; Sadleir, LG ; Scheffer, IE (WILEY-BLACKWELL, 2012-12)
    Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort with early onset absence epilepsy (EOAE) had GLUT1 deficiency. This study uses a new cohort of 55 patients with EOAE to confirm that finding. Patients with typical absence seizures beginning before 4 years of age were screened for solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) mutations or deletions. All had generalized spike-waves on electroencephalography (EEG). Those with tonic and/or atonic seizures were excluded. Mutations were found in 7 (13%) of 55 cases, including five missense mutations, an in-frame deletion leading to loss of a single amino acid, and a deletion spanning two exons. Over both studies, 11 (12%) of 89 probands with EOAE have GLUT1 deficiency. Given the major treatment and genetic counseling implications, this study confirms that SLC2A1 mutational analysis should be strongly considered in EOAE.
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    Epi4K: Gene discovery in 4,000 genomes
    Berkovic, S ; Cossette, P ; Delanty, N ; Dlugos, D ; Eichler, E ; Epstein, M ; Glauser, T ; Goldstein, D ; Heinzen, E ; Johnson, MR ; Kuzniecky, R ; Lowenstein, D ; Marson, T ; Mefford, H ; O'Brien, T ; Ottman, R ; Poduri, A ; Scheffer, I ; Sherr, E ; Shianna, K (WILEY, 2012-08)
    A major challenge in epilepsy research is to unravel the complex genetic mechanisms underlying both common and rare forms of epilepsy, as well as the genetic determinants of response to treatment. To accelerate progress in this area, the National Institute of Neurological Disorders and Stroke (NINDS) recently offered funding for the creation of a "Center without Walls" to focus on the genetics of human epilepsy. This article describes Epi4K, the collaborative study supported through this grant mechanism and having the aim of analyzing the genomes of a minimum 4,000 subjects with highly selected and well-characterized epilepsy.