<i>STXBP1</i> germline mutation and focal cortical dysplasia

Sharkov, Artem; Dulac, Olivier; Gataullina, Svetlana

doi:10.1684/epd.2021.1245

Cited by 5 publications

(2 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Epilepsy surgery should always be considered in STXBP1 patients as well. Several cases with focal epilepsy have been identified with focal cortical dysplasia due to both germline and somatic genetic mutations in STXBP1 mutations, with good seizure control upon lesionectomy [37,67,68]. Epilepsy surgery evaluation should always be considered in patients with focal medically refractory epilepsy even if there is a suspected genetic etiology.…”

Section: Treatmentmentioning

confidence: 99%

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions

Freibauer,

Wohlleben,

Boelman

2023

Genes

View full text Add to dashboard Cite

In recent years, the affordability and availability of genetic testing have led to its increased use in clinical care. The increased frequency of testing has led to STXBP1 variants being identified as one of the more common variants associated with neurological disorders. In this review, we aim to summarize the common clinical phenotypes associated with STXBP1 pathogenic variants, provide an overview of their known natural history, and discuss current research into the genotype to phenotype correlation. We will also provide an overview of the suspected normal function of the STXBP1-encoded Munc18-1 protein, animal models, and experimental techniques that have been developed to study its function and use this information to try to explain the diverse phenotypes associated with STXBP1-related disorders. Finally, we will explore current therapies for STXBP1 disorders, including an overview of treatment goals for STXBP1-related disorders, a discussion of the current evidence for therapies, and future directions of personalized medications for STXBP1-related disorders.

show abstract

Section: Treatmentmentioning

confidence: 99%

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions

Freibauer,

Wohlleben,

Boelman

2023

Genes

View full text Add to dashboard Cite

show abstract

“…When FCD emerges, the co-occurrence of pathogenic variants of SCN1A is not considered to account for the overall clinical picture, but the loss or dysfunction of the relevant protein, action of susceptibility factors and genetic modifiers of phenotypic expression may collectively play a certain role [41]. In addition, MRI signs related to FCD were detected in patients with other monogenic forms of epileptic encephalopathies [42]. Such associations discussed here by us highlight a need for further study to provide deeper insights into underlying mechanisms and, consequently, examination and clinical management of such patients [43][44][45].…”

Section: клинические случаи / Case Reportsmentioning

confidence: 99%

Variable clinic-EEG trajectories in male patients with <i>PCDH19</i> clustering epilepsy

Dmitrenko,

Sharkov,

Domoratskaya

et al. 2023

Èpilepsiâ paroksizmalʹnye sostoâ.

View full text Add to dashboard Cite

Background. The association between the protocadherin-19 (PCDH19) gene and epilepsy suggests that the X-linked inherited form of its pathogenic variant affects only women. Recent data has described males with somatic mosaicism, whose clinical picture is similar to the common manifestations in females.Objective: to report on three new cases of PCDH19 clustering epilepsy in male patients.Material and methods. Clinical data were collected from different centers through personal communication between authors, which means that the structured cohort was not tested. For all patients a next generation sequencing-based custom epilepsy gene panel and whole-exome sequencing by NextSeq 500 (Illumina Inc., USA) were performed.Results. All patients had a previously described mosaic variants in PCDH19 gene (NM_001184880.1). According to the electroencefalographic data, all patients had a diffuse slowdown of the background rhythm, interictal regional/multiregional epileptiform activity and ictal focal pattern in the frontotemporal regions. Brain magnetic resonance imaging at the age of 3 years showed delayed myelination without focal abnormalities in 2 patients.Conclusion. Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations.

show abstract

Multiple drugs

2021

Reactions Weekly

View full text Add to dashboard Cite

STXBP1 germline mutation and focal cortical dysplasia

Cited by 5 publications

References 17 publications

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions

Variable clinic-EEG trajectories in male patients with <i>PCDH19</i> clustering epilepsy

Multiple drugs

Contact Info

Product

Resources

About