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Epilepsia Open
Epilepsia Open
@epilepsia-open.bsky.social
6 months ago
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SE consists of prolonged seizures that can cause hippocampal injury and respiratory compromise.
doi.org/10.1002/epi4...

#epilepsy #ILAE #epilepsiaopen #benzodiazepines #AMPAreceptors #GABAAreceptors #NMDAreceptors #receptortrafficking

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Genetics in Medicine Open
Genetics in Medicine Open
@gimopenjournal.bsky.social
1 year ago
Screenshot of Figure 6. Diagram of the WASH complex and associated conditions. WASH complex components are depicted in the center of the diagram (20, 30-31). Pathogenic variants in SWIP, strumpellin, and WASHC3 cause phenotypes (text boxes) which all include short stature. GWA studies have found an association between height and SNPs near genes participating in WASH. This conceptual diagram incorporates findings from multiple previous studies (5, 27-28).

Screenshot of Figure 6. Diagram of the WASH complex and associated conditions. WASH complex components are depicted in the center of the diagram (20, 30-31). Pathogenic variants in SWIP, strumpellin, and WASHC3 cause phenotypes (text boxes) which all include short stature. GWA studies have found an association between height and SNPs near genes participating in WASH. This conceptual diagram incorporates findings from multiple previous studies (5, 27-28).

New evidence shows that the WASHC3 gene is associated with a new "WASH-opathy" of short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism bit.ly/4jRgacc #WASHC3 #WashComplex #ReceptorTrafficking #Growth #NeurodevelopmentalAbnormalities

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