Samuel Frank Berkovic

This paper uses automated patch-clamp assays to reclassify SCN1A missense variants, changing classifications for 50% of tested variants.

The paper evaluates ddPCR as a primary diagnostic tool for vascular anomalies, finding it detects 51% of pathogenic variants in a cohort, with an overall diagnostic yield of 75% when combined with NGS.

This study uses deep sequencing to identify genetic variants in focal cortical dysplasias, finding pathogenic variants in 71% of cases and highlighting the importance of somatic variants in FCDIIb.

This paper introduces KIML, a machine learning framework that integrates experimental data with biological knowledge to improve disease gene prioritisation, showing better performance than existing methods.

Genome sequencing improves diagnostic yield for developmental and epileptic encephalopathies by identifying structural and non-coding variants missed by exome or gene panel testing.

The paper reports a novel complex structural variant at the FBRSL1 locus causing a dominant-negative mechanism, leading to a severe developmental and epileptic encephalopathy in a patient with additional congenital abnormalities.

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper identifies ultra-rare variants in GABAergic genes associated with genetic generalized epilepsy syndromes and links their functional impact to epilepsy severity.

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

This study shows that atenolol reduces cardiac-related mortality in a genetic mouse model of SUDEP by mitigating seizure and LQTS interactions.

This study conducts a genome-wide meta-analysis of over 29,000 people with epilepsy, identifying 26 loci and revealing subtype-specific genetic architectures.

This study identifies seven new genetic loci associated with febrile seizures, linking them to fever response and neuronal excitability genes, and suggests potential clinical applications of polygenic risk scores.

The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.

The paper identifies loss-of-function KCNH2 variants as enriched in SUDEP patients compared to epilepsy controls, suggesting a genetic biomarker for SUDEP risk.

This study shows that GABA-mediated tonic inhibition differentially modulates gain in cortical interneurons based on their electrophysiological properties.