Ohtahara syndrome with emphasis on recent genetic discovery
- PMID: 21967765
- DOI: 10.1016/j.braindev.2011.09.004
Ohtahara syndrome with emphasis on recent genetic discovery
Abstract
Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-Burst, is the most severe and the earliest developing age-related epileptic encephalopathy. Clinically, the syndrome is characterized by early onset tonic spasms associated with a severe and continuous pattern of burst activity. It is a debilitating and early progressive neurological disorder, resulting in intractable seizures and severe mental retardation. Specific mutations in at least four genes (whose protein products are essential in lower brain's neuronal and interneuronal functions, including mitochondrial respiratory chains have been identified in unrelated individuals with EIEE and include: (a) the ARX (aristaless-related) homeobox gene at Xp22.13 (EIEE-1 variant); (b) the CDKL5 (SYK9) gene at Xp22 (EIEE-2 variant); (c) the SLC25A22 (GC1) gene at 11p15.5 (EIEE-3 variant); and (d) the Stxbp1 (MUNC18-1) gene at 9q34-1 (EIEE-4 variant). A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders.
Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Similar articles
-
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924
-
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).Am J Hum Genet. 2007 Aug;81(2):361-6. doi: 10.1086/518903. Epub 2007 Jun 11. Am J Hum Genet. 2007. PMID: 17668384 Free PMC article.
-
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.Pediatr Neurol. 2012 Jan;46(1):24-31. doi: 10.1016/j.pediatrneurol.2011.11.003. Pediatr Neurol. 2012. PMID: 22196487 Review.
-
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.Epilepsia. 2010 Dec;51(12):2397-405. doi: 10.1111/j.1528-1167.2010.02728.x. Epub 2010 Sep 30. Epilepsia. 2010. PMID: 20887364
-
Epileptic encephalopathies in infants and children.J Clin Neurophysiol. 2012 Oct;29(5):420-4. doi: 10.1097/WNP.0b013e31826bd961. J Clin Neurophysiol. 2012. PMID: 23027099 Review.
Cited by
-
Functional analysis of epilepsy-linked pathogenic variants of the Munc18-1 gene in the inhibitory nervous system of Caenorhabditis elegans.MicroPubl Biol. 2024 Apr 22;2024:10.17912/micropub.biology.001174. doi: 10.17912/micropub.biology.001174. eCollection 2024. MicroPubl Biol. 2024. PMID: 38716379 Free PMC article.
-
Deep brain stimulation for status dystonicus in a toddler with SCN2A-related disorder.Childs Nerv Syst. 2023 Nov;39(11):3033-3035. doi: 10.1007/s00381-023-06136-3. Epub 2023 Aug 29. Childs Nerv Syst. 2023. PMID: 37642686 No abstract available.
-
Sonlicromanol improves neuronal network dysfunction and transcriptome changes linked to m.3243A>G heteroplasmy in iPSC-derived neurons.Stem Cell Reports. 2021 Sep 14;16(9):2197-2212. doi: 10.1016/j.stemcr.2021.07.002. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329596 Free PMC article.
-
Benign and severe early-life seizures: a round in the first year of life.Ital J Pediatr. 2018 May 15;44(1):54. doi: 10.1186/s13052-018-0491-z. Ital J Pediatr. 2018. PMID: 29764460 Free PMC article. Review.
-
Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.Mol Cell Neurosci. 2018 Apr;88:33-42. doi: 10.1016/j.mcn.2017.12.002. Epub 2017 Dec 5. Mol Cell Neurosci. 2018. PMID: 29217410 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
Research Materials