Výsledky vyhledávání - "Allison H. Conravey"

Valproate-induced hyperammonemic coma in females with unrecognized partial ornithine transcarbamylase deficiency

Autor: Robin R McGoey, Allison H. Conravey, Joaquin Wong, Michael Marble

Publikováno v: Journal of Pediatric Neurology. :087-091

A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospec tive history and metabolic testing indicated ornithine tra nscarbamylase defici

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ec3fd84a4df8e4097e5d690a8107a45
https://doi.org/10.3233/jpn-2010-0436

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A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

Autor: Miriam H. Meisler, Mark Estacion, Michael F. Hammer, Sulayman D. Dib-Hajj, Allison H. Conravey, Stephen G. Waxman, Janelle E. O’Brien

Publikováno v: Neurobiology of Disease, Vol 69, Iss, Pp 117-123 (2014)

Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports this view, but the etiology of many cases of epile

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddc8480d6213f5a60c4b75ca78ecf529
https://pubmed.ncbi.nlm.nih.gov/24874546

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