Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
نویسندگان
چکیده
منابع مشابه
Pyridoxine-Dependent Epilepsy
A 2-day-old male neonate became increasingly irritable and developed repetitive twitching in the eyelids, face, and limbs around 24 h of life. He was the full-term product of nonconsanguineous parents following a normal pregnancy and uneventful spontaneous vaginal delivery. Investigations for infectious etiologies including blood and urine cultures as well as cerebrospinal fl uid analysis were ...
متن کاملUntargeted metabolomics.
Along with genes and proteins, metabolites play important roles in sustaining life. Their functions include "primary" functions in metabolism and energy storage, as well as "secondary" functions in cell-to-cell signaling, metal acquisition, and virulence. There remains much to be learned about the in vivo roles of metabolites. Approaches that accelerate measurement of metabolite levels directly...
متن کاملPyridoxine dependent epilepsy and antiquitin deficiency
Pyridoxine dependent epilepsy and antiquitin deficiency Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up Sylvia Stockler ⁎, Barbara Plecko , Sidney M. Gospe Jr. , Marion Coulter-Mackie , Mary Connolly , Clara van Karnebeek , Saadet Mercimek-Mahmutoglu , Hans Hartmann , Gunter Scharer , Eduard Struijs , Ingrid Tein , Cornelis Jakobs , Peter Clayto...
متن کاملPyridoxine dependent epilepsy: a suggestive electroclinical pattern.
AIMS To determine if there is an electroencephalographic pattern suggestive of pyridoxine dependent epilepsy that could be used to improve the chances of early diagnosis. METHODS A retrospective study was made of all the clinical records and electroencephalograms of neonates identified with pyridoxine dependent seizures between 1983 and 1994, at this hospital. Neonates whose seizures began af...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2021
ISSN: 1558-8238
DOI: 10.1172/jci148272