Article
A rare mutation in EIF2B4 gene in an epileptic child with vanishing white matter disease: a case report.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2015
Gungor O, Ozkaya A K, Hirfanoglu T, Dilber C, Aydin K
Abstract excerpt
A 12-month old boy presented with intractable seizures present since 3-month of age. He had, previously, been admitted numerous times to the pediatric emergency room for intractable and prolonged seizures during the course of his disease. Differential diagnosis was made to exclude several inborn metabolic disorders, including vitamin B6 deficiency, biotinidase deficiency and nonketotic hyperglycinemia. Although...
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