A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C

Yıl 2017, Cilt: 34 Sayı: 6, 580 - 583, 01.11.2017

Rüya Çolak Senem Alkan Özdemir Ezgi Yangın Ergon Mehtap Kağnıcı Şebnem Çalkavur

https://izlik.org/JA68EA66LS

Öz

Background: Glucose transporter type 1 deficiency
syndrome is the result of impaired glucose transport
into the brain. Patients with glucose transporter type
1 syndrome may present with infantile seizures,
developmental delay, acquired microcephaly, spasticity
and ataxia.
Case Report: Here, we report a rare case of glucose
transporter type 1 deficiency syndrome caused by a
different pathogenic variant in a 10-day-old neonate who
presented with intractable seizures and respiratory arrest.
Conclusion: This new pathogenic variant can be seen in
glucose transporter type 1 deficiency syndrome

Anahtar Kelimeler

Glut 1 deficiency syndrome , neonatal seizures , mutation

Kaynakça

• 1. Gomella TL. Lange Neonatology. 6th ed. Seizure activity management, procedures, on-call problems, diseases, and drugs; 2004:293-96.
• 2. Klepper J, Leiendecker B. GLUT1 deficiency syndrome 2007 update. Dev Med Child Neurol 2007;49:707-16.
• 3. Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, et al. Glucose transporter 1 deficiency in the idiopathic generalized epilepsies. Ann Neurol 2012;72:807-15.
• 4. Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, De Vivo DC, et al. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia 2012;53:1503-10.
• 5. De Giorgis V, Veggiotti P. GLUT1 deficiency syndrome 2013: current state of the art. Seizure 2013;22:803-11.
• 6. Verrotti A, D’Egidio C, Agostinelli S, Gobbi G. Glut1 deficiency: when to suspect and how to diagnose? Eur J Paediatr Neurol 2012;16:3-9.
• 7. Striano P, Weber YG, Toliat MR, Schubert J, Leu C, Chaimana R, et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012;78:557-62.
• 8. Weber YG, Storch A, Wuttke TV, Brockmann K, Kempfle J, Maljevic S, et al. GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 2008;118:2157-68.
• 9. Yu JY, Pearl PL. Metabolic causes of epileptic encephalopathy. Epilepsy Res Treat 2013;2013:124934.
• 10. Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 2008;131:1831- 44.