Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene-Reference-Cited by-同舟云学术

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Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene

Published:2011-02 Issue:2 Volume:102 Page:153-156
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Battini R.,Chilosi A.M.,Casarano M.,Moro F.,Comparini A.,Alessandrì M.G.,Leuzzi V.,Tosetti M.,Cioni G.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference32 articles.

1. Disorders of creatine metabolism;Stöckler-Ipsiroglu,2005

2. Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?;Cecil;Ann. Neurol.,2001

3. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8;Bizzi;Ann. Neurol.,2002

4. Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families;Mancini;Am. J. Med. Genet. A,2005

5. Severe epilepsy in X-linked creatine transporter defect (CRTR-D);Mancardi;Epilepsia,2007

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1. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21

2. Suggestion of creatine as a new neurotransmitter by approaches ranging from chemical analysis and biochemistry to electrophysiology;eLife;2023-12-21

3. Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation;American Journal of Medical Genetics Part A;2023-10-18

4. Rare disease variant curation from literature: assessing gaps with creatine transport deficiency in focus;BMC Genomics;2023-08-16

5. Evidence suggesting creatine as a new central neurotransmitter: presence in synaptic vesicles, release upon stimulation, effects on cortical neurons and uptake into synaptosomes and synaptic vesicles;2022-12-23

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