دورية أكاديمية
STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.
| العنوان: | STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes. |
|---|---|
| المؤلفون: | Gokce-Samar Z; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France. Electronic address: zeynep.gokce-samar@chu-lyon.fr., de Bellescize J; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France., Arzimanoglou A; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Member of ERN-EpiCARE; HFME, University Hospitals of Lyon (HCL), Lyon, France., Putoux A; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Chatron N; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Lesca G; Department of Genetics; HFME, Member of ERN-EpiCARE; University Hospitals of Lyon (HCL), Lyon, France., Portes VD; Department of Pediatric Neurology; Member of ERN-EpiCARE; Rare Disease Reference Centre for Intellectual Disability, University Hospitals of Lyon (HCL), And University Lyon1, Lyon, France. |
| المصدر: | European journal of medical genetics [Eur J Med Genet] 2022 Dec; Vol. 65 (12), pp. 104636. Date of Electronic Publication: 2022 Oct 07. |
| نوع المنشور: | Case Reports; Journal Article; Review |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, c2005- |
| مواضيع طبية MeSH: | Epilepsy, Absence*/complications , Intellectual Disability*/genetics , Intellectual Disability*/complications , Myoclonus*/genetics, Humans ; Electroencephalography ; Seizures ; Eyelids ; Cell Cycle Proteins |
| مستخلص: | Xq25 microduplication involving exclusively STAG2 is a new distinctive cohesinopathy including mild to moderate intellectual disability, speech delay and facial dysmorphism. Seizures seem to be scarce, but detailed seizure type descriptions are missing. We report the case of an 8-year-old boy with mild intellectual disability and eyelid myoclonia with onset at age of 3 years, initially misinterpreted as tics. An ictal VIDEO-EEG documented eye closure elicited generalized 3 Hz spike-waves or polyspike-waves concomitant to eyelid myoclonia, sometimes associated to brief clinically observable absences. Intermittent photic stimulation revealed a photoparoxysmal response. Array CGH identified a 199 kb copy number gain in Xq25 including the whole STAG2 gene, inherited from his asymptomatic mother. To the best of our knowledge, this is the first case of STAG2 encephalopathy fulfilling all electroclinical criteria for epilepsy with eyelid myoclonia and absences (EMA), formally named Jeavons syndrome (JS). As for other Genetic Generalized Epilepsy syndromes, EMA/JS usually occurs in normally developing children. Intellectual disability of variable degree is occasionally reported. On the background of other genes responsible for Developmental and Epileptic Encephalopathies, linked to specific generalized seizure types or seizure combinations, we discuss the contribution of pathogenic variants in CHD2, SYNGAP1 and some other genes as, RORB, NEXMIF and KCNB1 to this peculiar EMA phenotype. (Copyright © 2022 Elsevier Masson SAS. All rights reserved.) |
| فهرسة مساهمة: | Keywords: Duplication; Eyelid myoclonia with absence; Intellectual disability; Photosensitivity; STAG2 |
| المشرفين على المادة: | 0 (STAG2 protein, human) 0 (Cell Cycle Proteins) |
| تواريخ الأحداث: | Date Created: 20221010 Date Completed: 20221121 Latest Revision: 20221121 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1016/j.ejmg.2022.104636 |
| PMID: | 36216271 |
| قاعدة البيانات: | MEDLINE |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 1878-0849 |
|---|---|
| DOI: | 10.1016/j.ejmg.2022.104636 |