| Autor: |
Ioannis Zaganas, Pelagia Vorgia, Martha Spilioti, Lambros Mathioudakis, Maria Raissaki, Stavroula Ilia, Melpomeni Giorgi, Irene Skoula, Georgios Chinitrakis, Kleita Michaelidou, Evangelos Paraskevoulakos, Olga Grafakou, Chariklia Kariniotaki, Thekla Psyllou, Spiros Zafeiris, Maria Tzardi, George Briassoulis, Argirios Dinopoulos, Panayiotis Mitsias, Athanasios Evangeliou |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100477- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2589-9864 |
| DOI: |
10.1016/j.ebr.2021.100477 |
| Popis: |
We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2–18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, were identified in 9 known epilepsy-related genes through whole exome sequencing. A patient with glycine encephalopathy was a compound heterozygote for the p.Arg222Cys and the p.Ser77Leu AMT variant. A patient affected with Lafora disease carried the homozygous p.Arg171His EPM2A variant. A de novo heterozygous variant in the GABRG2 gene (p.Pro282Thr) was found in one patient and a pathogenic variant in the GRIN2B gene (p.Gly820Val) in another patient. Infantile-onset lactic acidosis with seizures was associated with the p.Arg446Ter PDHX gene variant in one patient. In two additional epilepsy patients, the p.Ala1662Val and the novel non-sense p.Phe1330Ter SCN1A gene variants were found. Finally, in 3 patients we observed a novel heterozygous missense variant in SCN2A (p.Ala1874Thr), a heterozygous splice site variant in SLC2A1 (c.517-2A>G), as a cause of Glut1 deficiency syndrome, and a pathogenic variant in STXBP1 (p.Arg292Leu), respectively. In half of our cases (patients with variants in the GRIN2B, SCN1A, SCN2A and SLC2A1 genes), a genetic cause with potential management implications was identified. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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