Late onset epileptic spasms is frequent in MECP2 gene duplication: Electroclinical features and long-term follow-up of 8 epilepsy patients
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Reference26 articles.
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2. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: report of one case of MECP2 deletion and one case of MECP2 duplication;Ariani;Hum Mutat,2004
3. Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients;Auvin;Epilepsia,2010
4. The three stages of epilepsy in patients with CDKL5 mutations;Bahi-Buisson;Epilepsia,2008
5. Mild overexpression of Mecp2 in mice causes a higher susceptibility toward seizures;Bodda;Am J Pathol,2013
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1. Exploring gastrointestinal health in MECP2 duplication syndrome;Neurogastroenterology & Motility;2023-04-30
2. Comparing late‐onset epileptic spasm outcomes after corpus callosotomy and subsequent disconnection surgery between post‐encephalitis/encephalopathy and non‐encephalitis/encephalopathy;Epilepsia Open;2023-02-06
3. IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation;Journal of Clinical Immunology;2022-11-02
4. Clinical and electroencephalography characteristics of 41 children with epileptic spasms onset after 1 year of age;Epilepsy & Behavior;2022-10
5. A brief history of MECP2 duplication syndrome: 20-years of clinical understanding;Orphanet Journal of Rare Diseases;2022-03-21
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