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Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
2 articles
Newest firstSCN1A -related disorders are the single most common monogenic cause of epilepsy and represent a major focus of precision medicine efforts. In conjunction with existing prospective studies, the analysis of real-world data obtained during routine clinical care can expand upon the scale and duration of available data and contribute to the development of meaningful outcomes for clinical trials. Here, we leveraged real…
Open article record in new tab ↗Epilepsy is a rare clinical manifestation in Williams-Beuren syndrome patients. However, some studies report the presence of infantile spasms and epilepsy in patients carrying larger deletions. Herein, we describe a 13-year-old female affected by Williams-Beuren syndrome and pharmacoresistant epilepsy reporting a de novo large heterozygous 7q11.21q21 deletion (19.4 Mb) also including the YWHAG gene. Studies indica…
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