Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome

Jiang, Tiejia; Shen, Yulong; Chen, Huai; Yuan, Zhao-Feng; Mao, Shanshan; Gao, Feng

doi:10.1097/md.0000000000013565

Cited by 18 publications

(18 citation statements)

References 25 publications

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“…It can be observed, in some cases, a pattern in the disturb from the discovery of genotype. 11,13,14 The mapping of a patient's genome makes it possible to construct of a database for genetic mutations in Epilepsy, SUDEP and Dravet. It also allows the interpretation of disease etiology.…”

Section: Resultsmentioning

confidence: 99%

“…40,43 All patient care in this process should always aim the best prognosis, even when there are serious phenotypes, which is because such conditions have consequences that are not only physiological, but also cognitive, psychologic and social, directly affecting the quality of life of the pacient. 11,13,14,34 Further studies in larger cohorts are required to define the genetic predisposition. 13…”

Section: Resultsmentioning

confidence: 99%

“…9,7 Also, DS can be classified as a channelopathy because 80% of the patients have a mutant SCN1A gene, responsible for codifying a protein that forms the sodium transport channel between the cell membranes. 11 As mentioned before the epileptic syndromes patients have a genetic inheritance involved in 70% of the cases. Because of that, the main genes were grouped together in a table relating each one to the corresponding pathologies.…”

Section: Introductionmentioning

confidence: 95%

“…It is related to DS, also denominated as early childhood epileptic encephalopathy type 6. [11][12][13] In this disease, particularly, there are 12 possibilities of deleterious alterations observed, being 50% missense type (c.829T> C, c.971A> C, c.2360T> G, c.4093G> T, c.5178G> T and c .5434T> C), 25% splice sites (IVS2 + 1A> G, IVS4 + 1G> A and IVS8 + 3G> T), 17% frameshift type (c.3719_3720insGATA and c.1242delA), 8% deletion of a triplet (c.5489_5491delAGT). 14 Mutations provide a great risk of SUDEP, because this is a rare and severe progressive encephalopathy without concrete treatment.…”

Section: Scn1amentioning

confidence: 99%

“…In cases of survival, the seizures occur in monoclonal crisis, of absence and partially complex, as well as cognitive impairment, ataxia and behavioral changes. 11 Unlike other types of seizures, that in many cases it is possible to manage, the same isn't possible in patients with DS, which still does not have a treatment option. 9 Dravet Syndrome is found between 1:20000 and 1:40000 people, with a prevalence two times higher in boys.…”

Section: Introductionmentioning

confidence: 99%

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Genetics in epilepsy, Dravet and SUDEP: A systematic review

Aguiar¹,

Rocha²,

Avi³

et al. 2019

JNSK

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Introduction: Epilepsy is a neurologic condition and its patients have higher mortality rates than healthy individuals. One of the most frequent death causes in epilepsy is SUDEP. Moreover, another cause in epilepsy, although rare, is Dravet Syndrome and it's generally diagnosed in children in their first year of life. In around 70% of the patients there is a genetic inheritance involved and several genes have been described as related to SUDEP and Dravet Syndrome which the most prevalent were DNA and belonged to the voltagegated channel coding. Objectives: Identify genes related do Dravet Syndrome, SUDEP and Epilepsy in literature, analyze the convergence of results, and discuss the differences that were found, contributing to the study of genetic mapping. Methodology: Meta-analysis realized through a bibliographical research in the electronic data banks such as PUBMED, NCBI, Scholar Google and Scielo with the descriptors Epilepsy; Epilepsies, Myoclonic; Polymorphism, Single Nucleotide; MicroRNAs; Death, Sudden. The languages used to filter the articles were English, Spanish and Portuguese. The year was a filtering factor, selecting only articles published in the last 20 years. Results: About forty (40) genes were found to be SUDEP related and the most relevant was KCNH2, appearing more frequently than other genes. Additionally, in Epilepsy without risk for SUDEP twenty-eight (28) DNA genes were found, which the most frequently mentioned was HCN2, appearing six (6) times. Among Dravet syndrome patients, only two (2) genes were described: SCN1A and SCN9A, both of them were SUDEP risk related. In epilepsy nineteen (19) microRNA genes were found in five (5) different articles. Project: It was identified genes related to Dravet Syndrome, SUDEP and Epilepsy in literature and was noted that some genes appeared more frequently than others. Among the DNA related genes, the most prevalent were around those belonging to the voltage-gated channel coding, being them sodium, hydrogen and potassium. The results demonstrate that 25% of all articles mentioned SCN1A; 17,5% mentioned HCN2 and 15% mentioned KCNH2. Together these findings provide a basis for further investigation around the role of ionic channels in SUDEP and DS. On the other hand, regarding to MicroRNA linked genes data were scarce. Only five articles described changes on SUDEP and neither described changes compatible with DS. There was no most prevalent mRNA gene. Conclusion: A range of studies associated DNA mutations with Epilepsy, DS and SUDEP. However, MicroRNA research could not provide concrete evidence on its influence in the development of the epilepsy and epilepsy related conditions. The identification of possible etiological factors can allow a correct and early diagnosis, providing better prognosis and therapeutic outcome, besides it can evaluate the recurrence of the disease in the family. Still, further prospective studies in larger cohorts are required to further define the genetic predisposition to SUDEP, DS and Epilepsy.

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Section: Resultsmentioning

confidence: 99%