Objective Focal epilepsy is the most common subtype of epilepsies in which the influence of underlying genetic factors is emerging but remains largely uncharacterized The purpose of this study is to determine the contribution of currently known diseasecausing genes in a large cohort n 593 of common focal nonlesional epilepsy patientsMethods The customized focal epilepsy gene panel
Novel variants in established epilepsy genes in focal epilepsy
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel the use of the multigene panel as a diagnostic test in routine clinical
Molecular diagnostics in drugresistant focal epilepsy define new
The ILAE consensus classification of focal cortical dysplasia An
The molecular genetic cause of epilepsy was identified in 28 patients and the overall diagnostic success rate was 509 We identified variants in 22 different genes associated with epilepsy that correlate well with the described phenotype This study provided the first comprehensive genotype and phenotype characterization of patients with
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BRAF V600E mutations have been negatively associated with recurrencefree survival in WHO grade I pediatric GG showing the high relevance of moleculargenetic markers for patient management and disease prognosis However the pathophysiological mechanisms that give rise to epileptic seizures in brain tumor patients remain to be fully
Molecular Genetic Characterization Of Patients With Focal
Molecular Genetic Characterization of Patients With Focal Epilepsy
Next generation sequencing NGS has allowed the discovery of a vast array of genetic contributors to epilepsy However most findings are limited to examining patients with epileptic encephalopathy and severe epileptic syndromes of childhood 1 2 or adults with epilepsy and intellectual disability 3Until recently our understanding of the causal contribution of gene variants in focal
Application of single cell genomics to focal epilepsies A call to
The findings indicate that mutations in known genes likely explain only a small proportion of focal epilepsy cases which is not surprising given the established clinical and genetic heterogeneity of these disorders and underscores the importance of further gene discovery studies in this complex syndrome Objectives We report development of a targeted resequencing gene panel for focal
Molecular Genetic Characterization of Patients With Focal Epilepsy
A targeted resequencing gene panel for focal epilepsy
Molecular Genetic Characterization Of Patients With Focal
Characterization of 13 Novel Genetic Variants in Genes Associated with
Abstract Focal epilepsies are the largest epilepsy subtype and associated with significant morbidity Somatic variation is a newly recognized genetic mechanism underlying a subset of focal epilepsies but little is known about the processes through which somatic mosaicism causes seizures the cell types carrying the pathogenic variants or their developmental origin
Molecular Genetic Characterization of Patients With Focal Epilepsy
The literature confirmed new moleculargenetic characterizations involving the mechanistic Target Of FCD classification in 2011 identified a substantial gain of knowledge in the electroclinicalimaging phenotyping and genetic characterization of FCD MRI is an essential cornerstone in the workup of patients with focal epilepsy 6
Molecular Genetic Characterization of Patients With Focal Epilepsy
Some of these unsolved focal epilepsy patients may have a genetic etiology Recently patients with focal structural epilepsies were also found to have a genetic cause such as mTOR pathway genes mutations in focal cortical dysplasia 5 6 Several diseasecausing genes were identified in patients presented with focal seizures as part of their