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X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. ProtonExpand
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Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?
Recent reports highlight the utility of in vivo magnetic resonance spectroscopy (MRS) techniques to recognize creatine deficiency syndromes affecting the central nervous system (CNS). Reported casesExpand
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High prevalence of SLC6A8 deficiency in X-linked mental retardation.
A novel X-linked mental retardation (XLMR) syndrome was recently identified, resulting from creatine deficiency in the brain caused by mutations in the creatine transporter gene, SLC6A8. We haveExpand
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Seizure frequency and characteristics in children with Down syndrome
Seizures have not historically been considered a major component of Down syndrome. We examined the prevalence of epileptic seizures in 350 children and adolescents with Down syndrome evaluated at aExpand
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Neuropsychological status at seizure onset in children
Objective: This large, prospective, community-based study characterized neuropsychological functioning and academic achievement at the time of the first recognized seizure and identified risk factorsExpand
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Incidence of Brain Creatine Transporter Deficiency in Males with Developmental Delay Referred for Brain Magnetic Resonance Imaging
ABSTRACT. Several case reports describe children with global developmental delay who have brain creatine deficiency, where the deficiency was due to a lack of creatine transport into the brain orExpand
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Cyclocreatine treatment improves cognition in mice with creatine transporter deficiency.
The second-largest cause of X-linked mental retardation is a deficiency in creatine transporter (CRT; encoded by SLC6A8), which leads to speech and language disorders with severe cognitiveExpand
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Effectiveness of Amitriptyline in the Prophylactic Management of Childhood Headaches
Objective.—To study the effectiveness of a standardized dose of amitriptyline, 1 mg/kg, for childhood headaches.
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Multimodality imaging in the surgical treatment of children with nonlesional epilepsy
Objectives: To evaluate the diagnostic value of individual noninvasive presurgical modalities and to study their role in surgical management of nonlesional pediatric epilepsy patients. Methods: WeExpand
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Creatine Transporter (CrT; Slc6a8) Knockout Mice as a Model of Human CrT Deficiency
Mutations in the creatine (Cr) transporter (CrT; Slc6a8) gene lead to absence of brain Cr and intellectual disabilities, loss of speech, and behavioral abnormalities. To date, no mouse model of CrTExpand
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