Valproic acid as a monotherapy in drug-resistant methyl-CpG-binding protein 2 gene (MECP2) duplication-related epilepsy
Author:
Publisher
Elsevier BV
Subject
Behavioral Neuroscience,Neurology (clinical),Neurology
Reference13 articles.
1. Structural variation in Xq28: MECP2 duplication in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy;Lugtenberg;Eur J Hum Genet,2009
2. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males;Van Esch;Am J Hum Genet,2005
3. Recurrent infections, hypotonia, and mental retardation caused by duplication of MECP2 and adjacent region in Xq28;Friez;Pediatrics,2006
4. Late onset epileptic spasms is frequent in MECP2 gene duplication: electroclinical features and long-term follow-up of 8 epilepsy patients;Caumes;Eur J Pediatr Neurol,2014
5. Submicroscopic duplications in Xq28 causes increased expression of the MECP2 gene in a boy with severe retardation and features of Rett syndrome;Meins;J Med Genet,2005
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1. Medical Comorbidities in MECP2 Duplication Syndrome: Results from the International MECP2 Duplication Database;Children;2022-04-28
2. Reviewing Evidence for the Relationship of EEG Abnormalities and RTT Phenotype Paralleled by Insights from Animal Studies;International Journal of Molecular Sciences;2021-05-18
3. MECP2-Related Disorders and Epilepsy Phenotypes;Journal of Pediatric Neurology;2021-04-13
4. Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies;The Lancet Neurology;2020-08
5. Valproic acid;Reactions Weekly;2018-12
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