Method: 26 cases with EOAE and 40 probands with CAE or JAE were screened for SCL2A1 mutations by sequence analysis. Extensive phenotyping was performed in patients and family members.
Results: Mutations in SLC2A1 were detected in 2/26 EOAE patients and 0/40 patients with familial absence epilepsy. One EOAE patient with a mild phenotype had a variant in exon 8 (c.1008G>C) leading to an amino acid exchange (336Leu>Val), the family history was unremarkable. The other EOAE patient with a very early onset of a severe epilepsy phenotype and movement disorder had a base exchange at position c.1189C>T causing a stop codon (p.Q397X) in exon 9. Familial GTCS were reported in his brother and the paternal grandmother.
Conclusion: Our study confirmed the role of SLC2A1 mutation carriers in EOAE and demonstrated that SLC2A1 do not seem to play a major role in CAE and JAE. Since ketogenic diet is a well known treatment option in GLUT-1-deficiency, pediatricians as well as neurologists may revisit the age of onset in patients diagnosed with absence epilepsies.
|Publikationsdato||31. mar. 2011|
|Status||Udgivet - 31. mar. 2011|
|Begivenhed||29th International Epilepsy Congress - Rom, Italien|
Varighed: 28. aug. 2011 → 1. sep. 2011
|Konference||29th International Epilepsy Congress|
|Periode||28/08/2011 → 01/09/2011|