Rayann Checri
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View article: Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives Open
Brain somatic mutations are increasingly recognized as major drivers of focal epilepsy particularly in malformations of cortical development. While traditionally relying on surgically resected tissue for genetic analysis, recent advances i…
View article: Genetic Insights Into Hypothalamic Hamartoma
Genetic Insights Into Hypothalamic Hamartoma Open
Our findings reinforce the role of somatic variants in Shh and cilia genes in HH cases while also shedding light on TNK2 as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism in epile…
View article: <scp><i>PACS2</i></scp> pathogenic variant associated with malformation of cortical development and epilepsy
<span><i>PACS2</i></span> pathogenic variant associated with malformation of cortical development and epilepsy Open
PACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical developm…
View article: Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup Open
Brain-restricted somatic variants in genes of the mechanistic target of rapamycin signalling pathway cause focal epilepsies associated with focal cortical dysplasia type II. We hypothesized that somatic variants could be identified from tr…