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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Orphanet Journal of Rare Diseases

Oct 22, 2019

Julia HanVirginia E Kimonis

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Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and jerky gait, excess laughter, seizures, and severe intell...read more

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Alleles
Brain
Clinical Trials
Folic Acid
Gene Deletion
Genes
Genome
Methylation
Neurons
Treatment Protocols
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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

Orphanet Journal of Rare Diseases

Oct 22, 2019

Julia HanVirginia E Kimonis

PMID: 31640736

DOI: 10.1186/s13023-019-1216-0

Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13. AS leads to stiff and jerky gait, excess laughter, seizures, and severe intell...read more

Mentioned in this Paper

Alleles
Brain
Clinical Trials
Folic Acid
Gene Deletion

Related Papers

Paper Details
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