Julia Saykally

TL;DR: The results provide definitive evidence that de novo mutations in SLC1A2 and CACNA1A cause specific EEs and expand the compendium of clinically relevant genotypes for GABRB3 and report a mutation in IQSEC2.

TL;DR: Target resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE), accounting for ~4% of unsolved MAE cases.

TL;DR: While recent molecular findings in epileptic spasms emphasize the contribution of de novo mutations, this work highlights the relevance of inherited mutations in the setting of a family history of focal epilepsies and illustrates the utility of clinical diagnostic testing and detailed phenotypic evaluation in characterizing the constellation of phenotypes associated with DEPDC5 alterations.

TL;DR: Targeted sequencing was used to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS and identified a genetic diagnosis for 7.6% of the cohort.

TL;DR: In this article, targeted resequencing of 644 individuals with epileptic encephalopathies led to the identification of six SLC6A1 mutations in seven individuals, all of whom have epilepsy with myoclonic-atonic seizures (MAE).