Angelman syndrome caused by deletion: A genotype-phenotype correlation determined by breakpoint
Abstract
Objectives Deletion of the chromosome 15q11-q13, the most common genetic mechanism associated with Angelman syndrome (AS), is highly associated with a severe phenotype. However, deletion is not a genetically homogeneous group as it is composed by two main groups: Class I with breakpoints at BP1 (proximal) and BP3 (distal) and Class II present breakpoints at BP2 (proximal) and BP3 (distal). In this study, we aimed to evaluate the impact of the breakpoint on the electroclinical profile. Methods We evaluated 16 patients with AS caused by 15q11-13 deletion (6 were Class I; 10 were Class II). We characterized epilepsy features by clinical history obtained from parents and caretakers with a pre-standard questionnaire. These data were corroborated by medical records, contact with previous physicians, and video-EEG monitoring. Suggestive EEG patterns for AS were classified according to the classical description of Boyd et al. (1988). Results AS patients with BP1-BP3 deletion had significantly more daily and disabling seizures than AS patients with BP1-BP2 deletion. They also presented a significant higher frequency of status epilepticus and epilepsy aggravated by fever. Need for polytherapy was significantly more frequent in BP1-BP3 patients. EEG features were similar in both groups. Conclusion This study shows a significant correlation between the two deletion classes and AS clinical, but not the electrographic phenotype. Epilepsy is more severe and refractory to treatment in patien…
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Individuals with Angelman syndrome and the 15q11-q13 type I deletion had more severe seizures and were refractory to treatment compared with those having the type II deletion.
“Valente et al. [11] also reported in Angelman syndrome that those with the 15q11–q13 type I deletion had more severe seizures and were refractory to treatment compared with those having the type II deletion.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [11]
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- Authors
- Valente, K. D., Varela, M. C., Koiffmann, C. P., Andrade, J. Q., Grossmann, R., Kok, F., & Marques-Dias, M. J.
- Affiliations
- Universidade de São Paulo (BR)
- Corresponding author
- Valente, Kette D.
- Venue
- Epilepsy Research
- Publisher
- Elsevier BV
- Published
- 2013-07
- Volume
- 105
- Issue
- 1-2
- Pages
- 234-239
- ISSN
- 0920-1211 (ISSN-L)
- OpenAlex
- W2144581947
- Cited by
- 35
- References
- 19
- Citations by year
- 2024: 2 · 2023: 6 · 2021: 4 · 2020: 5 · 2019: 1 · 2018: 1 · 2017: 3 · 2016: 5 · 2015: 7 · 2014: 1
- FWCI
- 2.87
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Epilepsy Research (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Angelman syndrome, chromosome 15q11-q13 deletion, breakpoints, genotype-phenotype correlation, epilepsy severity, seizure frequency, status epilepticus, febrile seizures, EEG patterns, treatment-refractory epilepsy, parental counseling
- MeSH terms
- Child, Electroencephalography, Follow-Up Studies, Humans, Prospective Studies, Angelman Syndrome, Gene Deletion, Genetic Association Studies, Chromosome Breakpoints
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