Michael S. Hildebrand

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

This study conducts a GWAS meta-analysis of stuttering, identifying genetic links with speech disorders and highlighting shared genetic architecture across different ascertainment methods.

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.

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.

This study uses snRNA-seq and a new method called GO-TEN to analyze mosaic genetic variants in focal cortical dysplasia, revealing cell-autonomous and non-cell-autonomous transcriptional changes associated with epilepsy.

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

The paper reports a cohort of 17 patients with pathogenic KCNH5 variants causing neurodevelopmental disorders and epilepsy, identifying genotype-phenotype correlations.

The paper investigates SETBP1 variants outside the degron, showing they cause a heterogeneous neurodevelopmental disorder through loss-of-function mechanisms independent of protein abundance.

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

This study identifies a missense mutation in MLKL causing lethal neonatal inflammation in mice and links it to increased frequency in human autoinflammatory disease.