Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1
- PMID: 25779878
- DOI: 10.1111/ahg.12106
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1
Abstract
Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.
Keywords: 9q33-q34; DNM1; EIEE; SPTAN1; STXBP1; deletion; early myoclonic encephalopathy.
© 2015 John Wiley & Sons Ltd/University College London.
Similar articles
-
Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.Epileptic Disord. 2018 Jun 1;20(3):214-218. doi: 10.1684/epd.2018.0969. Epileptic Disord. 2018. PMID: 29897043
-
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.Genet Med. 2012 Oct;14(10):868-76. doi: 10.1038/gim.2012.65. Epub 2012 Jun 21. Genet Med. 2012. PMID: 22722545 Free PMC article.
-
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations.Pediatr Neurol. 2014 Jul;51(1):170-5. doi: 10.1016/j.pediatrneurol.2014.03.013. Epub 2014 Apr 4. Pediatr Neurol. 2014. PMID: 24938147
-
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?Neurology. 2019 Jul 16;93(3):114-123. doi: 10.1212/WNL.0000000000007786. Epub 2019 Jun 20. Neurology. 2019. PMID: 31221716 Review.
-
17p13.1 microdeletion: genetic and clinical findings in a new patient with epilepsy and comparison with literature.Am J Med Genet A. 2014 Jan;164A(1):225-30. doi: 10.1002/ajmg.a.36225. Am J Med Genet A. 2014. PMID: 24501763 Review.
Cited by
-
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
-
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.Mov Disord Clin Pract. 2023 Mar 16;10(4):547-557. doi: 10.1002/mdc3.13711. eCollection 2023 Apr. Mov Disord Clin Pract. 2023. PMID: 37070051 Free PMC article. Review.
-
Cytogenomic epileptology.Mol Cytogenet. 2023 Jan 5;16(1):1. doi: 10.1186/s13039-022-00634-w. Mol Cytogenet. 2023. PMID: 36600272 Free PMC article. Review.
-
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.J Neurochem. 2021 Apr;157(2):165-178. doi: 10.1111/jnc.15120. Epub 2020 Aug 4. J Neurochem. 2021. PMID: 32643187 Free PMC article. Review.
-
Rare gene deletions in genetic generalized and Rolandic epilepsies.PLoS One. 2018 Aug 27;13(8):e0202022. doi: 10.1371/journal.pone.0202022. eCollection 2018. PLoS One. 2018. PMID: 30148849 Free PMC article.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Medical
Miscellaneous