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Updated: Jul 14, 2026
06:58
A Behavioral Screen for Heat-Induced Seizures in Mouse Models of Epilepsy
Published on: July 12, 2021
Severe epilepsy in X-linked creatine transporter defect (CRTR-D)
Maria Margherita Mancardi1, Ubaldo Caruso, Maria Cristina Schiaffino
1Department of Child Neuropsychiatry, Epilepsy Unit, G. Gaslini Institute, Genoa, Italy.
Epilepsia
|June 8, 2007
Summary
Creatine transporter deficiency (CRTR-D) can cause severe, refractory epilepsy, challenging previous understandings of this rare neurological disorder. Early diagnosis through metabolite analysis and genetic testing is crucial for affected children.
Area of Science:
- Neuroscience
- Genetics
- Metabolic Disorders
Background:
- Recent identification of creatine synthesis/transporter disorders causing neurological impairment.
- Established mild phenotype for creatine transporter deficiency (CRTR-D) with infrequent seizures.
- Prior favorable response of CRTR-D epilepsy to standard antiepileptic drugs.
Observation:
- A 5-year-old boy presented with severe, refractory epilepsy and a history of speech delay.
- Standard investigations were insufficient to identify the underlying cause initially.
Findings:
- Metabolite analysis and brain 1H-MRS indicated CRTR-D.
- Genetic confirmation revealed a pathogenic mutation (c.1631C>T; p.Pro544Leu) in the SLC6A8 gene.
- This case highlights a severe, drug-resistant epilepsy phenotype in CRTR-D.
Implications:
- Expands the known clinical spectrum of CRTR-D beyond mild epilepsy.
- Underscores the importance of considering CRTR-D in severe, refractory epilepsy cases.
- Suggests a need for broader diagnostic approaches in pediatric epilepsy.
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