Publications by authors named "Rania Snobar"

Introduction Epileptogenesis has been considered one of the most prevalent diseases affecting significant numbers of individuals worldwide. Since vitamin B12 has been reported to possess antiepileptic effects, this supports that vitamin B12 deficiency is correlated to seizure occurrence. Hence, this study aimed to evaluate the neuroprotective effects of vitamin B12 injection on pentylenetetrazole (PTZ)-induced rats.

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We report a case of a five-month-old girl, who presented to our hospital with increased work of breathing, sweating since birth, and abnormal eye movements. On further evaluation, she was found to have restrictive cardiomyopathy, nystagmus, and hypotonia. Genetic workup showed a pathogenic variant in the ALSM1 gene, which confirmed the diagnosis of Alström syndrome.

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