Inborn errors of creatine metabolism and epilepsy
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12020/fullpdf
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3. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal;Almeida;Mol Genet Metab,2007
4. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype;Anselm;J Inherit Metab Dis,2006
5. Creatine transporter deficiency in two half-brothers;Ardon;Am J Med Genet A,2010
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2. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency;European Journal of Paediatric Neurology;2024-03
3. A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variant;Seizure: European Journal of Epilepsy;2023-12
4. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation;American Journal of Medical Genetics Part A;2023-10-18
5. Novel GAMT mutation associated with cerebral creatine deficiency syndrome (CCDS2) in a Syrian child: a case report;Annals of Medicine & Surgery;2023-04-12
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