The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment

Bravo, Gary Álvarez; Izquierdo, A. Yusta

doi:10.1016/j.seizure.2018.06.010

Cited by 13 publications

(16 citation statements)

References 4 publications

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“…At the age of 12 years, she had a severe movement disorder. Unlike typical DS, this patient had the movement disorder Parkinson's disease ( 112 ). Patients with STXBP1 mutation have DS-like phenotypes regardless of SCN1A mutations, and STXBP1 has been included as a rare candidate gene for DS ( 28 ).…”

Section: Discussion and Synthesismentioning

confidence: 87%

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes

et al. 2022

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BackgroundDravet syndrome (DS) is a severe epileptic encephalopathy mainly caused by haploinsufficiency of the gene SCN1A, which encodes the voltage-gated sodium channel NaV1. 1 in the brain. While SCN1A mutations are known to be the primary cause of DS, other genes that may cause DS are poorly understood. Several genes with pathogenic mutations result in DS or DS-like phenotypes, which may require different drug treatment approaches. Therefore, it is urgent for clinicians, especially epilepsy specialists to fully understand these genes involved in DS in addition to SCN1A. Particularly for healthcare providers, a deep understanding of these pathogenic genes is useful in properly selecting and adjusting drugs in a more effective and timely manner.ObjectiveThe purpose of this study was to identify genes other than SCN1A that may also cause DS or DS-like phenotypes.MethodsA comprehensive search of relevant Dravet syndrome and severe myoclonic epilepsy in infancy was performed in PubMed, until December 1, 2021. Two independent authors performed the screening for potentially eligible studies. Disagreements were decided by a third, more professional researcher or by all three. The results reported by each study were narratively summarized.ResultsA PubMed search yielded 5,064 items, and other sources search 12 records. A total of 29 studies published between 2009 and 2021 met the inclusion criteria. Regarding the included articles, seven studies on PCDH19, three on SCN2A, two on SCN8A, five on SCN1B, two on GABRA1, three on GABRB3, three on GABRG2, and three on STXBP1 were included. Only one study was recorded for CHD2, CPLX1, HCN1 and KCNA2, respectively. It is worth noting that a few articles reported on more than one epilepsy gene.ConclusionDS is not only identified in variants of SCN1A, but other genes such as PCDH19, SCN2A, SCN8A, SCN1B, GABRA1, GABRB3, GABRG2, KCNA2, CHD2, CPLX1, HCN1A, STXBP1 can also be involved in DS or DS-like phenotypes. As genetic testing becomes more widely available, more genes associated with DS and DS-like phenotypes may be identified and gene-based diagnosis of subtypes of phenotypes in this spectrum may improve the management of these diseases in the future.

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Section: Discussion and Synthesismentioning

confidence: 87%

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes

et al. 2022

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“…In conclusion, in reviewing the merits of various treatment options for a case of STXBP1 mutation with dysplasia, it seems preferable to try a more conventional treatment such as that for PCDH19 epilepsy before considering surgery [8]. For patients with STXBP1 pathogenic variants, it is our view that, in an effort to identify cortical dysplasia that may have been overlooked, a series of MRI scans should be carried out as soon as temporal myelination has been completed.…”

Section: Discussionmentioning

confidence: 99%

STXBP1 germline mutation and focal cortical dysplasia

Sharkov

Dulac²,

Gataullina

2021

Epileptic Disorders

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“…The case report by Bravo and Izquierdo focused on a 19 year old female with Dravet syndrome. 12 Administration of CBD as adjuvant therapy significantly reduced her number of daily seizures. However, due to the focus on one patient, the report lacks reliability and cannot be considered strong enough for clinical use.…”

Section: Related Literaturementioning

confidence: 97%

“…This searc h resulted in sixty nine articles, with eleven specifically focusing on Dravet syndrome and cannabidiol therapy: three clinical trials with human subjects 2,3,4 , one clinical trial with a mouse model 5 , five commentaries [6][7][8][9][10] , one review 11 , and one case report. 12 The review ISSN: 2379-4550 http://digitalcommons.wayne.edu/crp, © 2019 The Author(s) 2…”

Section: Related Literaturementioning

confidence: 99%