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Dergiler / Turkish Journal of Pediatrics / 2019 / Cilt: 61 - Sayı: 6

A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient

Ala ÜSTYOL
Satoru TAKAHASHİ
Halil Uğur HATİPOĞLU
Mehmet Ali DUMAN
Murat ELEVLİ
Hatice Nilgün Selçuk DURU
Sayfa
946–948
DOI
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Yapay Zeka Hızlı Bakış & Çıkarımlar

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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

This case will be useful in clarifying thephenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolicencephalopathy that is probably underdiagnosed.
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Temel Bulgular & Veri:We report acase of myoclonic seizures not responding to anti-epileptics since the age ofone year in a 17-year-old patient with a normal phenotype and neuromotordevelopment.
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Sonuç & Katkı:This case will be useful in clarifying thephenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolicencephalopathy that is probably underdiagnosed. Although developmentaldelay, acquired microcephaly, spasticity, and impaired coordination wereinitially described as the classic findings, mild cases with no pronouncedneuromotor compromise have since been included in the broad clinicalspectrum with new mutations being identified more recently. We report acase of myoclonic seizures not responding to anti-epileptics since the age ofone year in a 17-year-old patient with a normal phenotype and neuromotordevelopment. Previously unreported p.Phe389Leu mutation was determinedin the SLC2A1 gene in our patient. This case will be useful in clarifying thephenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.

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Bu Makaleye Atıf Yap

ÜSTYOL, A., TAKAHASHİ, S., HATİPOĞLU, H. U., DUMAN, M. A., ELEVLİ, M., DURU, H. N. S. (2019). A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 6, 946–948. https://ajindex.com/articles/412006

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Kaynakça (9)

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