Results 171 to 178 of about 2,677 (178)

CARDIAC MANIFESTATIONS IN A CHILD WITH A NOVEL MUTATION IN CREATINE TRANSPORTER GENE SLC6A8

Neurology, 2008
The creatine-phosphocreatine shuttle serves to maintain a high-energy phosphate supply for normal cellular function. Most creatine is derived from the diet; the rest is synthesized primarily in the liver, pancreas, and kidneys. The transport of creatine in tissues is accomplished by the Na+-dependent transporter SLC6A8. Expression of the SLC6A8 gene is
Irina A, Anselm, David L, Coulter, Basil T, Darras   +2 more
openaire   +2 more sources

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness

Molecular Genetics and Metabolism, 2012
We report here a 6-year-old boy exhibiting severe dystonia, profound intellectual and developmental disability with liver disease, and sensorineural deafness. A deficient creatine peak in brain (1)H-MR spectroscopy and high ratio of creatine/creatinine concentration in his urine lead us to suspect a creatine transporter (solute carrier family 6, member
Osaka, H., Takagi, A., Tsuyusaki, Y., Wada, T., Lai, M., Yamashita, S., Shimbo, H., Saitsu, H., Salomons, G.S., Jakobs, C.A.J.M., Aida, N., Toshihiro, S., Kuhara, T., Matsumoto, N.   +13 more
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Response to Therapy of Creatine Transporter Deficiency Caused by a Hypomorphic Variant in Slc6a8

Molecular Genetics and Metabolism
Cerebral creatine deficiency syndromes (CCDS) are rare inherited metabolic disorders caused by defective biosynthesis or transport of creatine. These conditions are characterized by reduced accumulation of creatine in the brain, mild to severe intellectual disability, global developmental delay, and speech-language disorders.
Nicola, Longo, Laura Alane, Voss, Marta, Frigeni, Bijina, Balakrishnan, Marzia, Pasquali   +4 more
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Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency ( SLC6A8 )

Neurology
Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials.As part of a French National Research Program ...
Curie, Aurore, Lion-François, Laurence, Valayannopoulos, Vassili, Perreton, Nathalie, Gavanon, Marie, Touil, Nathalie, Brun-Laurisse, Amandine, Gheurbi, Fahra, Buchy, Marion, Halep, Hulya, Cheillan, David, Mercier, Catherine, Brassier, Anaïs, Desnous, Béatrice, Kassai, Behrouz, de Lonlay, Pascale, Des Portes, Vincent   +16 more
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[Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics
Objective: To analyze the clinical features of creatine transporter(CRTR) deficiency associated with SLC6A8 gene variants. Methods: The clinical data (clinical presentation, brain imaging, creatine metabolism test and gene variants) of 5 patients admitted to Beijing Children's Hospital, Capital Medical University and diagnosed with CRTR deficiency ...
L, Yang, F, Fang, H, Jin, Y, Wu
openaire   +1 more source

A case of drug-resistant epilepsy and autism with de novo SLC6A8 gene variant

Seizure: European Journal of Epilepsy, 2023
David Horvat, Matthew Kaminski, Yitao Ma
openaire   +2 more sources

X-linked Creatine transport deficiency: Phenotypic variability in a family with SLC6A8 gene mutation

Neuropediatrics, 2013
N Heußinger, M Saake, A Mennecke, HG Dörr, R Trollmann   +4 more
openaire   +1 more source

Efficacy of creatine supplementation in a patient with epilepsy with SLC6A8 gene mutations

Epileptic Disorders
Yiqi, Zhang, Xianyun, Liu, Xi, Peng
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