A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient
Turkish Journal of Pediatrics, cilt.61, sa.6, ss.946-948, 2019 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 61 Sayı: 6
- Basım Tarihi: 2019
- Doi Numarası: 10.24953/turkjped.2019.06.018
- Dergi Adı: Turkish Journal of Pediatrics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.946-948
- Anahtar Kelimeler: SLC2A1 gene, GLUT-1 deficiency syndrome, drug-resistant epilepsy
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
GLUT-1 deficiency syndrome is a rare, frequently unrecognized metaboliencephalopathy that is probably underdiagnosed. Although developmentadelay, acquired microcephaly, spasticity, and impaired coordination werinitially described as the classic findings, mild cases with no pronounceneuromotor compromise have since been included in the broad clinicaspectrum with new mutations being identified more recently. We report case of myoclonic seizures not responding to anti-epileptics since the age oone year in a 17-year-old patient with a normal phenotype and neuromotodevelopment. Previously unreported p.Phe389Leu mutation was determinein the SLC2A1 gene in our patient. This case will be useful in clarifying thphenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.